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Human piebaldism: relationship between phenotype and site of kit gene mutation.

Abstract
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 four unrelated patients with piebaldism and consider the variations in phenotype in relation to the site of the kit gene mutation.
AuthorsK A Ward, C Moss, D S Sanders
JournalThe British journal of dermatology (Br J Dermatol) Vol. 132 Issue 6 Pg. 929-35 (Jun 1995) ISSN: 0007-0963 [Print] England
PMID7544995 (Publication Type: Case Reports, Journal Article)
Chemical References
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Receptors, Colony-Stimulating Factor
  • Proto-Oncogene Proteins c-kit
  • Receptor Protein-Tyrosine Kinases
Topics
  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Mast Cells
  • Mutation
  • Pedigree
  • Phenotype
  • Piebaldism (genetics, pathology)
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins (genetics)
  • Proto-Oncogene Proteins c-kit
  • Receptor Protein-Tyrosine Kinases (genetics)
  • Receptors, Colony-Stimulating Factor (genetics)
  • Skin (pathology)

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