PMID: 7525736Nov 1, 1994Paper

Molecular basis of human piebaldism

The Journal of Investigative Dermatology
Richard A Spritz

Abstract

Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cell-surface receptor transmembrane tyrosine kinase for an embryonic growth factor, Steel factor. Several pathologic mutations of the KIT gene have now been identified in different patients with piebaldism. Correlation of these mutations with the associated piebald phenotypes has led to the recognition of a hierarchy of three classes of mutations that result in a graded series of piebald phenotypes, and to improved understanding of the mechanisms that underlie dominant genetic disorders.

References

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Citations

Mar 1, 1997·Seminars in Cutaneous Medicine and Surgery·R A Spritz
Jul 5, 2005·Acta Haematologica·Cem Akin
Nov 17, 2006·The British Journal of Dermatology·Z-M LinY Yang
Aug 26, 2004·The British Journal of Dermatology·S M TaibjeeC Moss
Aug 3, 2006·The British Journal of Dermatology·M Cario-AndréA Taieb
Oct 16, 2004·International Journal of Dermatology·Isabelle ThomasRobert A Schwartz
Apr 1, 1996·Current Opinion in Immunology·R M Perlmutter, J Alberola-Ila
Aug 1, 1996·Trends in Genetics : TIG·G S Barsh
Jun 6, 2003·Current Opinion in Genetics & Development·Richard A SpritzAsem Alkhateeb

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