Dyskeratosis congenita and related telomere biology disorders

Disease Overview

Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are conditions caused by short and/or dysfunctional telomeres. Telomeres are protective caps at the ends of chromosomes that keep genetic information, or DNA, stable. ^1-4

These disorders can affect many systems of the body, including the bone marrow (which makes blood cells), immune system, lungs, liver, bones, hair, skin, and nails. People with DC/TBD have an increased risk of developing certain cancers, including both solid tumors and blood cancers.

DC/TBD are caused by rare disease-causing gene changes (pathogenic variants) in at least 15 different genes. Depending on which gene is responsible for DC/TBD in a family, the condition can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Gene changes can also occur for the first time in an individual (called “de novo”) and not be passed down from a parent. ^1-4

There is no cure for DC/TBD, and treatment focuses on managing symptoms and monitoring for complications. Bone marrow failure can be treated with hematopoietic cell transplantation (HCT) or androgens. ^1-4

Introduction

DC was first described by Zinsser in 1906. Later, in 1926 and 1930, Engman and Cole published additional case reports. Because of this, DC is also called Zinsser-Engman-Cole syndrome. In 1999, researchers reported that some males with DC had changes in a gene called DKC1 (on the X chromosome), which codes for a protein that helps maintain telomeres. This established the connection between shortened telomeres and the features of DC. ^5,6

“Telomere biology disorder” is an overarching term that encompasses several disorders, including DC, Revesz syndrome, Hoyeraal-Hreidarsson syndrome, and Coats plus syndrome.

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Synonyms

• Zinsser-Engman-Cole syndrome
• DC
• DKC

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Signs & Symptoms

Signs & Symptoms of Dyskeratosis Congenita

Every person with DC is different and may develop different symptoms at different times throughout their life. Symptoms can present at any age.⁷

DC is characterized by three main symptoms, although these are not present for all patients: ⁷

• Changes in skin pigmentation that may look like a lace pattern (lacy reticular pigmentation) or irregular spots on the face, neck, and chest, but can occur anywhere
• White patches in the mouth (oral leukoplakia)
• Abnormal fingernails and toenails (dysplastic nails)

Other common symptoms are: ⁷

• Bone marrow failure (BMF)
  • Bone marrow is often unable to produce enough healthy blood cells, which can cause bleeding, infections, and fatigue
• Cancers, including blood cancers and tumors of the head, neck, or genital area
  • Occur at younger ages (typically < 50)
  • The most common solid tumor is a squamous cell carcinoma of the head/neck region
• A progressive lung condition called pulmonary fibrosis (also called interstitial lung disease), in which the lung tissue becomes scarred and stiff
  • Dry cough
  • Shortness of breath or trouble breathing
• Joint pain, stiffness, or bone fractures
• Early hair greying or hair loss
• Eye and eyelash differences
  • Increased watering of the eyes due to narrowing of the tear duct
  • Sparse eyelashes and differences in eyelid position that could cause scraping or scarring
• Thickened skin on the hands or feet, or excessive sweating of the hands or feet
• Narrowing of the esophagus
• Teeth that look “bull-like” (short roots, large pulp chambers) on x-ray

More rare symptoms are: ^7-9

• Small head size (microcephaly)
• Mental health or brain development problems
  • Depression and/or anxiety/panic attacks, autism spectrum disorder, and bipolar disorder
  • Delays in motor milestones or development
• Liver problems
  • Scarring of liver tissue that causes high blood pressure in the liver
• Chronic diarrhea

Signs & Symptoms of Other Telomere Biology Disorders

Revesz syndrome, Hoyeraal-Hreidarsson syndrome, and Coats plus syndrome are rare telomere biology disorders (TBDs) that have similar features to DC. People with these conditions usually develop more severe symptoms earlier in life and have a decreased life expectancy compared to people with DC. Revesz syndrome and Hoyeraal-Hreidarsson syndrome are associated with extremely short telomeres (much below the 1st percentile for age), while Coats plus syndrome may present with borderline telomere lengths^{. 2, 10}

Common symptoms of Revesz syndrome are:^{1, 2. 11, 12}

• Abnormal blood vessels in the retina (back part of the eye), which can cause vision problems
• Brain abnormalities
  • Deposits of calcium in the brain
  • A small or underdeveloped cerebellum, which controls balance and coordination, leading to unsteadiness or difficulty walking
• Slowed or restricted growth before birth and during childhood
• Fine or sparse hair
• Intellectual disability

Common symptoms of Hoyeraal-Hreidarsson syndrome are: ^{1, 2, 11, 13, 14}

• A small or underdeveloped cerebellum, which controls balance and coordination, can lead to unsteadiness or difficulty walking
• Slowed or restricted growth before birth and during childhood
• A weakened immune system, which increases the risk of infections
• Small head size (microcephaly)
• Moderate to severe intellectual disability

Common symptoms of Coats plus syndrome are: ^{1, 2, 10, 11}

• Enlarged blood vessels in the retina (part of the eye), which can cause vision problems
• Brain abnormalities
  • Deposits of calcium or cysts in the brain
  • Loss of brain white matter (leukodystrophy), which could cause seizures or problems with thinking and movement
  • Intellectual disability
• Gastrointestinal bleeding
• Bone brittleness and impaired bone healing
• Low platelets and/or bone marrow failure

People can also be affected by “isolated” TBDs. These conditions usually do not show symptoms until adulthood and usually only have one or two features associated with DC/TBDs. For example, some people only have pulmonary fibrosis and no other symptoms. Isolated TBDs typically cause telomere lengths that are below the 10th percentile rather than below the first percentile. ¹⁵

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Causes

DC/TBD are genetic conditions caused by pathogenic variants in genes that help our bodies build, protect, and maintain telomeres. ^{1, 11} Telomeres are repeating sequences of DNA (TTAGGG) located at the ends of chromosomes that act like protective caps. In DC, the main problem involves the maintenance of telomeres, causing them to become too short and/or not function correctly.

Many DC-related genes help the body rebuild telomeres after cells divide (through an enzyme called telomerase), protect telomeres like a cap, and support these jobs by helping telomerase work and get to the right place. When these genes do not work as expected, telomeres are abnormally short from the outset, which can lead cells to stop dividing (senescence) or die prematurely. If cells continue dividing despite this, chromosomes can become unstable, increasing the risk of serious complications.^3,16,17

Over time, this can cause problems in the body, especially in the parts that rely on frequent cell divisions, like our skin, nails, hair, mouth, and bone marrow. As fast-growing cells cannot keep dividing normally, the body can run low on stem cells (which are the cells used to make new cells). Stem cells in our bone marrow make blood cells, and therefore fewer bone marrow stem cells can lead to lower blood counts (bone marrow failure), which can worsen over time and progress to serious blood diseases like myelodysplastic syndrome (MDS) or leukemia. This can also weaken our immune system, because immune cells also need to keep making new cells. ^{1, 4, 11} The instability of chromosomes from impaired telomere maintenance in individuals with DC can also increase the risk of cancer, as cells are more likely to divide in an uncontrolled manner. ¹⁸

Inheritance – Dyskeratosis Congenita:

DC can be passed through families in several different inheritance patterns, as many different genes can be involved. In about 80% of individuals with DC, genetic testing identifies a pathogenic variant in a known telomere-related gene; in the remaining cases, the genetic cause may not yet be identified. DC can also occur as a new, spontaneous (“de novo”) pathogenic variant in an individual, meaning it may not always run in families.³

Different genetic changes can cause different degrees of severity of the condition and different ages of symptom onset. It is therefore important to determine the genetic basis, if any, of an individual’s DC through molecular genetic testing, as this will determine the mode of inheritance in each family. In about 15%-20% of individuals with DC, the genetic cause cannot be identified based on current scientific knowledge, suggesting there may be other genetic factors or complex interactions that can contribute to DC. ¹¹

X-linked:

Pathogenic variants in the gene DKC1 cause DC that follows an X-linked inheritance pattern.³

X-linked genetic disorders are conditions caused by pathogenic variants on the X chromosome and mostly affect males. Females with a pathogenic variant on one of their X chromosomes are “carriers” for that disorder. Carrier females usually do not have symptoms because females have two X chromosomes and only one carries the pathogenic variant. Males have one X chromosome that is inherited from their mother, and if a male inherits an X chromosome that contains a pathogenic variant, he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.

A male with an X-linked disorder will pass the gene variant to all his daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male children.

For DC that follows X-linked inheritance, female carriers do not usually have symptoms. If they do, they typically have milder symptoms, although there have been cases of female carriers with more severe symptoms. In addition, some males with a DKC1 pathogenic variant may not show clear signs of the condition until later in life (incomplete penetrance), so it may not always be obvious during childhood.^19-21

Recessive 

Pathogenic variants in the CTC1, DCLRE1B, NHP2, NOP10, POT1, STN1, TERT, TERC, RTEL1, PARN, and WRAP53 genes cause DC that follows an autosomal recessive inheritance pattern.^{3, 15}

Recessive genetic disorders occur when an individual inherits disease-causing gene variants from both parents. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% for each pregnancy. The risk of having a child who is a carrier, like the parents, is 50% for each pregnancy. The chance for a child to receive normal genes from both parents is 25% for each pregnancy. The risk is the same for males and females. 

Dominant

Pathogenic variants in the NAF1, RPA1, TERC, TINF2, RTEL1, PARN, TERT, or ZCCHC8 genes cause DC that follows an autosomal dominant inheritance pattern.³

Dominant genetic disorders occur when only one copy of the gene needs to have a pathogenic variant to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (“de novo”) change in the affected individual’s gene that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.

Pathogenic variants in the ACD, PARN, RTEL1, or TERT genes can cause DC that follows either an autosomal dominant or an autosomal recessive inheritance pattern. ³

Inheritance – Other Telomere Biology Disorders

Revesz syndrome can be caused by pathogenic variants in TINF2 and follows an autosomal dominant inheritance pattern.

Coats plus syndrome can be caused by pathogenic variants in CTC1, STN1, or POT1, and follows an autosomal recessive inheritance pattern.^{2, 12}

Hoyeraal-Hreidarsson syndrome can be caused by pathogenic variants in several telomere biology genes, most commonly DKC1, TERT, TINF2, RTEL1, ACD, and PARN.^{: 2, 15}

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Affected populations

Classic DC is estimated to affect approximately 1 in 1 million people, although the exact prevalence in the general population is still unknown. ¹⁸. In general, DC is considered to be rare, with only 800-1,000 affected individuals known as of March 2022. ³  However, TBDs with only one or two clinical manifestations are likely much more common.

Males are more likely to be affected by DC than females. Some DC-related gene pathogenic variants are more frequent in certain ethnic communities. For example, founder pathogenic variants in RTEL1 and TERT have both been reported in people with Ashkenazi Jewish ancestry. ^{3, 10}

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Disorders with Similar Symptoms

Symptoms of the following conditions may be similar to those of DC and related TBDs, especially because nail changes and bone marrow failure (low blood counts) can occur in other disorders.

Disorders that can cause abnormal nails (nail dysplasia) that may resemble the skin and nail findings in DC/TBD and may be considered in a differential diagnosis include: ^{3, 22}

1. Twenty-nail dystrophy (gene variant in FZD6): A condition that mainly affects the nails, in which the nails can become thick and may lift or separate from the nail bed.
2. Nail-patella syndrome (gene variant in LMX1B): A condition that causes missing, small, or abnormal-appearing nails, such as with ridges, small pits, color changes, or splits.
3. Poikiloderma with neutropenia (gene variant in USB1): when the skin has patchy, spotted changes (poikiloderma) and the body has long-term low levels of white blood cells (neutrophils), leading to recurring breathing infections and sometimes long-term lung damage (bronchiectasis). Nails can be abnormal, and there is a higher risk for serious blood issues (myelodysplastic syndrome). Rothmund-Thomson syndrome and epidermolysis bullosa simplex can cause these symptoms.
4. Dermatopathia pigmentosa reticularis and Naegeli–Franceschetti–Jadassohn syndrome: Conditions that can cause net-like, similar dark skin coloration (reticulate hyperpigmentation) as DC.
5. Graft-versus-host disease: This is a complication that can occur after HCT t and can cause similar skin changes and issues with the lining of the mouth that can resemble the symptoms of DC.

Disorders that can cause inherited bone marrow failure that may resemble the nail findings in DC/TBD and may be considered in a differential diagnosis include: ^{3, 22}

1. Fanconi anemia: A condition that can cause birth differences, worsening low blood counts (bone marrow failure) over time and which often shows up as the first sign of the condition. However, many individuals with this condition do not show obvious signs. It is therefore important to exclude Fanconi anemia as a potential diagnosis when an individual is suspected of having DC, such as via a chromosomal breakage test.
2. Shwachman-Diamond syndrome: A condition that can cause digestive issues due to pancreatic issues (malabsorption), poor growth (growth restriction), low blood counts (bone marrow failure), and bone changes.
3. Diamond-Blackfan anemia: A condition that causes severe anemia (low red blood cells), birth defects, slow growth, and increased risk for certain blood conditions. Like with DC, bone marrow failure can often be the first sign of this condition.

Acquired aplastic anemia can also look similar to DC/TBD, and it involves the bone marrow not making enough blood cells. Often, individuals diagnosed with aplastic anemia, especially if later in life, actually have an underlying DC/TBD even if they may lack the other classic signs of DC/TBD. ³

Idiopathic pulmonary fibrosis, which involves scarring of the lungs, can also be the first sign of DC/TBD, and should thus be considered as a potential diagnosis. ³

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Diagnosis

Dyskeratosis congenita may be suspected when an individual displays certain features or health problems that are seen to occur together in DC. The three most common features are abnormal nails, a lace-like discoloration on the chest or neck, and white patches inside the mouth, although these may not be present for all patients. When an individual has two out of the three of these features, DC may be suspected. DC can also be considered if someone has one of these features along with bone marrow failure or a family history of similar problems. Lastly, this condition may be considered if one of the three classic features is seen along with other, rarer health problems seen in DC. ³

A diagnosis of DC can be assessed by testing telomere length in white blood cells. Very short telomere length seen in white blood cells supports a diagnosis of DC. DC can also be confirmed by performing genetic testing. Genetic testing via a blood draw can be performed to confirm a diagnosis of DC when testing shows pathogenic variants in genes associated with DC, listed in prior sections. Testing may be limited to genes known to cause DC and other telomere biology-related disorders, or more expansive, depending on the clinical picture. ³

Occasionally, genetic testing from blood may not identify a pathogenic variant even when one is present in other tissues, which can still cause symptoms. If genetic testing is negative yet the individual shows signs and symptoms suspicious of a TBD, genetic testing of a second source, such as skin cells, can be considered to help confirm the diagnosis. ³

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Standard Therapies

When an individual is initially diagnosed with DC or a related TBD, the body systems that could be affected should be assessed for any differences. This includes evaluating several organs and body systems such as the blood, skin, lungs, liver, and others, depending on the individual. Routine surveillance should be undertaken to monitor for manifestations of DC. This surveillance includes regular blood tests, such as complete blood counts, to monitor for bone marrow failure, with additional testing, such as bone marrow biopsy, if concerns arise. Cancer screening, such as skin exams and oral/head and neck exams, is recommended along with lung exams to monitor for pulmonary fibrosis. Patients should routinely undergo dental and eye exams for oral issues and ophthalmologic manifestations, respectively. Routine liver function tests should be run to monitor for liver disease. ²³

Treatment for DC/TBDs depends on the individual’s symptoms. Bone marrow failure should be treated with a matched related donor bone marrow transplant, if available. If a matched related donor is not available, an unrelated donor may be used. Additionally, androgen therapy could be considered. Androgens are male hormones that can be administered to help increase blood cell production. If androgen therapy is being used, specific evaluations such as routine blood tests and liver/spleen ultrasounds are  necessary to monitor the treatment and side effects.^23-28

Individuals with DC/TBDs should avoid certain exposures. Radiation and known carcinogens should be avoided so as not to increase cancer risk. ²³

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials are also posted on the following page on the NORD website:  https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact: http://www.centerwatch.com/

For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

At the time of writing, one interventional clinical trial is active and recruiting for Telomere Biology disorders. Additional clinical trials exist for bone marrow failure, of which individuals with DC/TBDs may be eligible.

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References

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2. Rolles, B., Tometten, M., Meyer, R., Kirschner, M., Beier, F., & Brümmendorf, T. H. (2024). Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment. Transfusion Medicine and Hemotherapy, 51(5), 292–309. https://doi.org/10.1159/000540109
3. Savage, S. A., & Niewisch, M. R. (2023). Dyskeratosis congenita and related telomere biology disorders. In M. P. Adam et al. (Eds.), GeneReviews®. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK22301/
4. Tummala, H., Walne, A., & Dokal, I. (2022). The biology and management of dyskeratosis congenita and related disorders of telomeres. Expert Review of Hematology, 15(8), 685–696. https://doi.org/10.1080/17474086.2022.2108784
5. Knight, S. W., Heiss, N. S., Vulliamy, T. J., Greschner, S., Stavrides, G., Pai, G. S., Lestringant, G., Varma, N., Mason, P. J., Dokal, I., & Poustka, A. (1999). X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. American Journal of Human Genetics, 65(1), 50–58. https://doi.org/10.1086/302446
6. Mitchell, J. R., Wood, E., & Collins, K. (1999). A telomerase component is defective in the human disease dyskeratosis congenita. Nature, 402(6761), 551–555. https://doi.org/10.1038/990141
7. Niewisch, M. R., Giri, N., McReynolds, L. J., Alsaggaf, R., Bhala, S., Alter, B. P., & Savage, S. A. (2022). Disease progression and clinical outcomes in telomere biology disorders. Blood, 139(12), 1807–1819. https://doi.org/10.1182/blood.2021013523
8. Bhala, S., Best, A. F., Giri, N., Alter, B. P., Pao, M., Gropman, A., Baker, E. H., & Savage, S. A. (2019). CNS manifestations in patients with telomere biology disorders. Neurology Genetics, 5(6), 370. https://doi.org/10.1212/NXG.0000000000000370
9. Rackley, S., Pao, M., Seratti, G. F., Giri, N., Rasimas, J. J., Alter, B. P., & Savage, S. A. (2012). Neuropsychiatric Conditions Among Patients with Dyskeratosis Congenita: A Link with Telomere Biology? Psychosomatics, 53(3), 230–235. https://doi.org/10.1016/j.psym.2011.09.003
10. de Andrade, K. C., Pinto, E. M., Zhao, T., Zeigler, L. P., Kim, J., Giri, N., Haley, J. S., McReynolds, L. J., Florez-Vargas, O., Phillips, A. H., Kriwacki, R. W., Akinniyi, S. A., Cohen, S. B., Emerson, M. R., Smelser, D. T., Urban, G. M., Fridman, C., Zambetti, G. P., Bryan, T. M., Carey, D. J., … Savage, S. A. (2025). TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders. NPJ genomic medicine, 10(1), 46. https://doi.org/10.1038/s41525-025-00501-8
11. Tummala, H., Walne, A. J., Badat, M., Patel, M., Walne, A. M., Alnajar, J., Chow, C. C., Albursan, I., Frost, J. M., Ballard, D., Killick, S., Szitányi, P., Kelly, A. M., Raghavan, M., Powell, C., Raymakers, R., Todd, T., Mantadakis, E., Polychronopoulou, S., Pontikos, N., … Dokal, I. (2024). The evolving genetic landscape of telomere biology disorder dyskeratosis congenita. EMBO molecular medicine, 16(10), 2560–2582. https://doi.org/10.1038/s44321-024-00118-x
12. Karremann, M., Neumaier-Probst, E., Schlichtenbrede, F., Beier, F., Brümmendorf, T. H., Cremer, F. W., Bader, P., & Dürken, M. (2020). Revesz syndrome revisited. Orphanet Journal of Rare Diseases, 15(1), 299. https://doi.org/10.1186/s13023-020-01553-y
13. Le Guen, T., Jullien, L., Touzot, F., Schertzer, M., Gaillard, L., Perderiset, M., Carpentier, W., Nitschke, P., Picard, C., Couillault, G., Soulier, J., Fischer, A., Callebaut, I., Jabado, N., Londono-Vallejo, A., De Villartay, J.-P., & Revy, P. (2013). Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability. Human Molecular Genetics, 22(16), 3239–3249. https://doi.org/10.1093/hmg/ddt178
14. Glousker, G., Touzot, F., Revy, P., Tzfati, Y., & Savage, S. A. (2015). Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. British Journal of Haematology, 170(4), 457–471. https://doi.org/10.1111/bjh.13442
15. Savage, S. A. (2025). Telomeres and Human Disease. Cold Spring Harbor Perspectives in Biology, a041684. https://doi.org/10.1101/cshperspect.a041684
16. de Lange, T. (2025). How shelterin orchestrates the replication and protection of telomeres. Cold Spring Harbor Perspectives in Biology, a041685.
17. Deng, Y., Chang, S. Role of telomeres and telomerase in genomic instability, senescence and cancer. Lab Invest 87, 1071–1076 (2007). https://doi.org/10.1038/labinvest.3700673
18. MedlinePlus Genetics. (2014, March 1). Dyskeratosis congenita. https://medlineplus.gov/genetics/condition/dyskeratosis-congenita/
19. Hirvonen, E. A. M., Peuhkuri, S., Norberg, A., Degerman, S., Hannula-Jouppi, K., Välimaa, H., Kilpivaara, O., & Wartiovaara-Kautto, U. (2019). Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation. Leukemia, 33(1), 275–278. https://doi.org/10.1038/s41375-018-0243-5
20. Knight, S., Vulliamy, T., Copplestone, A., Gluckman, E., Mason, P., & Dokal, I. (1998). Dyskeratosis Congenita (DC) Registry: identification of new features of DC. British journal of haematology, 103(4), 990–996. https://doi.org/10.1046/j.1365-2141.1998.01103.x

21. Xu, J., Khincha, P. P., Giri, N., Alter, B. P., Savage, S. A., & Wong, J. M. (2016). Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations. American journal of hematology, 91(12), 1215–1220. https://doi.org/10.1002/ajh.24545
22. Garofola, C., Nassereddin, A., & Gross, G. P. (2023). Dyskeratosis congenita. In StatPearls. StatPearls Publishing. http://www.ncbi.nlm.nih.gov/books/NBK507710/
23. Team Telomere. (n.d.). A community for telomere biology disorders. Retrieved February 13, 2026, from https://teamtelomere.org/
24. Groarke, E. M., Giri, N., & Young, N. S. (n.d.). Medical management of bone marrow failure in telomere biology disorders.
25. Niewisch, M. R., & Savage, S. A. (2019). An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Review of Hematology, 12(12), 1037–1052. https://doi.org/10.1080/17474086.2019.1662720
26. Inherited Bone Marrow Failure Syndrome (IBMFS) Research Study—Current research studies. (n.d.). Retrieved February 13, 2026, from https://www.marrowfailure.cancer.gov/
27. Savage, S. A., & Cook, E. F. (n.d.). Dyskeratosis congenita and telomere biology disorders: Diagnosis and management guidelines.
28. Savage, S. A., Dokal, I., Armanios, M., Aubert, G., Cowen, E. W., Domingo, D. L., Giri, N., Greene, M. H., Orchard, P. J., Tolar, J., Tsilou, E., Van Waes, C., Wong, J. M. Y., Young, N. S., & Alter, B. P. (2009). Dyskeratosis congenita: The first NIH clinical research workshop. Pediatric Blood & Cancer, 53(3), 520–523. https://doi.org/10.1002/pbc.22061

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