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30 results
  1. ... of the United States Copyright Act, the GeneReview "Dyskeratosis Congenita and Related Telomere Biology Disorders" is in the public domain in the United States of America. References Literature Cited Alter BP, Giri N, Savage SA, ...
  2. ... carcinoma include the following:[ 1 - 8 ] Fanconi anemia. Dyskeratosis congenita. Connexin variants. Chronic graft-versus-host disease. Epidermolysis bullosa. Xeroderma pigmentosum. Human papillomavirus infection. References Oksüzoğlu B, Yalçin S: Squamous cell carcinoma of ...
  3. Your skin is your body's largest organ. It covers and protects your body. Learn about skin conditions, including causes, symptoms, and treatment. ... What ...
  4. ... the BRCA pathogenic variants that decrease protein levels). Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) Dyskeratosis congenita, like Werner syndrome , results in premature aging and ...
  5. ... pulmonary hypertension, obstructive sleep apnea, emphysema, GERD, & obesity) Dyskeratosis congenita 1 See Dyskeratosis Congenita and Related Telomere Biology ...
  6. ... DNA repair genes. Telomere biology disorders (e.g., dyskeratosis congenita): Resulting from variants in genes that regulate telomere length. Genes altered in dyskeratosis congenita include ACD , CTC1 , DKC1 , NHP2 , NOP10 , PARN , RTEL1 , ...
  7. ... been clinically misdiagnosed as having Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome (a rare subtype of epidermolysis ... RPA1 RTEL1 STN1 TERC TERT TINF2 WRAP53 ZCCHC8 Dyskeratosis congenita & related telomere biology disorders XL AD AR 1 ...
  8. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/dyskeratosis-congenita</url><title >Dyskeratosis congenita</title><other_names ><other_ ...
  9. ... Review Beta-Thalassemia. Langer AL. GeneReviews(®). 1993 Review Dyskeratosis Congenita and Related Telomere Biology Disorders. [GeneReviews(®). 1993] Review ...
  10. ... NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 Dyskeratosis congenita XL AD AR Progressive bone marrow failure Myelodysplasia ... or slowly progressive. 2. Although most persons with dyskeratosis congenita have normal psychomotor development and normal neurologic function, ...
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