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...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Exons
- Face
- Female
- Fingers
- Humans
- Male
- Molecular Sequence Data
- Mouth Abnormalities