Article
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.
American journal of human genetics - 1 Nov 1992
Spritz R A, Holmes S A, Ramesar R, Greenberg J, Curtis D, Beighton P
Abstract excerpt
Piebaldism is a rare autosomal dominant disorder of pigmentation, characterized by congenital patches of white skin and hair from which melanocytes are absent. We have previously shown that piebaldism can result from missense and frameshift mutations of the KIT proto-oncogene, which encodes the c...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Female
- Frameshift Mutation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Piebaldism