Article
Human piebaldism: relationship between phenotype and site of kit gene mutation.
The British journal of dermatology - 1 Jun 1995
Ward K A, Moss C, Sanders D S
Abstract excerpt
Human piebaldism is a rare autosomal dominant disorder characterized by congenital depigmented patches of skin and hair. Piebaldism results from mutations of the kit proto-oncogene, which encodes a cell-surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. We report...
Topics
- Adolescent
- Adult
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Humans
- Male
- Mast Cells
- Mutation
- Pedigree
- Phenotype
- Piebaldism
- Proto-Oncogene Mas
- Proto-Oncogene Proteins
- Proto-Oncogene Proteins c-kit
- Receptor Protein-Tyrosine Kinases
- Receptors, Colony-Stimulating Factor
- Skin