X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene - 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 (Am J Hum Genet, 1999)