Article
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
American journal of human genetics - 1 Sept 1998
Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser D L, Wittwer B, Horst J, Montini E, Opitz J M, Ballabio A, Muenke M
Abstract excerpt
The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Exons
- Female
- Frameshift Mutation
- Humans
- Male
- Microtubule Proteins
- Molecular Sequence Data
- Multigene Family
- Mutation
- Nuclear Proteins