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18 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Dyskeratosis Congenita and Related Telomere Biology Disorders Synonym: Zinsser-Cole- ... Estimated reading time: 42 minutes Summary Clinical characteristics. Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are ...
  2. ... the BRCA pathogenic variants that decrease protein levels). Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) Dyskeratosis congenita, like Werner syndrome , results in premature aging and ...
  3. ... published></health-condition-summary><health-condition-summary ><name >Dyskeratosis congenita</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. ... 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 , ...
  5. ... Review Beta-Thalassemia. Langer AL. GeneReviews(®). 1993 Review Dyskeratosis Congenita and Related Telomere Biology Disorders. [GeneReviews(®). 1993] Review ...
  6. ... carcinoma include the following:[ 1 - 8 ] Fanconi anemia. Dyskeratosis congenita. Connexin variants. Chronic graft-versus-host disease. Epidermolysis ... Giri N, Savage SA, et al.: Cancer in dyskeratosis congenita. Blood 113 (26): 6549-57, 2009. [ PMC free ...
  7. ... cutaneous syndrome: MedlinePlus Genetics (National Library of Medicine) Dyskeratosis congenita: MedlinePlus Genetics (National Library of Medicine) Dystrophic epidermolysis ...
  8. ... associated changes. Autosomal dominant inheritance has been described. Dyskeratosis congenita (DC) manifests with features overlapping with PC including ...
  9. ... syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer. 2018; 65 ( ...
  10. ... having certain genetic conditions, such as: Fanconi anemia dyskeratosis congenita connexin gene mutations epidermolysis bullosa xeroderma pigmentosum having ...
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