X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Article, Other literature type English OPEN
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)
  • Publisher: Elsevier BV
  • Journal: The American Journal of Human Genetics,volume 65,issue 1,pages50-58 (issn: 0002-9297)
  • Related identifiers: pmc: PMC1378074, doi: 10.1086/302446
  • Subject: Genetics(clinical) | Genetics | Research Article

Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-lin... View more
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