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Autosomal recessive dyskeratosis congenita 4
- ... Dokal I. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec 15;110(13):4198-205. doi: 10.1182/blood-2006-12-062851. Epub 2007 Sep 4. Citation on PubMed or Free article on PubMed ...
- ... ClinicalTrials.gov DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 DYSKERATOSIS CONGENITA, X-LINKED; DKCX REVESZ ...
- ... length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum ...