- ... 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 ...
- ... the BRCA pathogenic variants that decrease protein levels). Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) Dyskeratosis congenita, like Werner syndrome , results in premature aging and ...
- ... published></health-condition-summary><health-condition-summary ><name >Dyskeratosis congenita</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... 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 , ...
- ... Review Beta-Thalassemia. Langer AL. GeneReviews(®). 1993 Review Dyskeratosis Congenita and Related Telomere Biology Disorders. [GeneReviews(®). 1993] Review ...
- ... 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 ...
- ... cutaneous syndrome: MedlinePlus Genetics (National Library of Medicine) Dyskeratosis congenita: MedlinePlus Genetics (National Library of Medicine) Dystrophic epidermolysis ...
- ... associated changes. Autosomal dominant inheritance has been described. Dyskeratosis congenita (DC) manifests with features overlapping with PC including ...
- ... syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer. 2018; 65 ( ...
- ... having certain genetic conditions, such as: Fanconi anemia dyskeratosis congenita connexin gene mutations epidermolysis bullosa xeroderma pigmentosum having ...
18 results