Article
Identification of the gene for oral-facial-digital type I syndrome.
American journal of human genetics - 1 Mar 2001
Ferrante M I, Giorgio G, Feather S A, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf A S, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B
Abstract excerpt
Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males and is characterized by malformations of the face, oral cavity, and digits, and by a highly variable expressivity even within the same family. Malformation of the brain and polycystic kidneys are commonly associated with this disorder. The locus for OFD1 was mapped by linkage analysis...
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