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

Por 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
Publicado em 1999