Article
Human piebaldism: six novel mutations of the proto-oncogene KIT.
Human mutation - 1 Sept 2002
Syrris Petros, Heathcote Kirsten, Carrozzo Romeo, Devriendt Koen, Elçioglu Nursel, Garrett Christine, McEntagart Meriel, Carter Nicholas D
Abstract excerpt
Human piebaldism is a rare autosomal dominant disorder that comprises congenital patchy depigmentation of the scalp, forehead, trunk and limbs. It is caused by mutations in the cell-surface receptor tyrosine kinase gene (KIT, also c-kit). We screened three families and three isolated cases of piebaldism from different countries for mutations in the KIT gene using automated sequencing methods. We report six novel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.