Electronic Resource
Oxford, UK
:
Blackwell Publishing Ltd
British journal of dermatology
132 (1995), S. 0
ISSN:
1365-2133
Source:
Blackwell Publishing Journal Backfiles 1879-2005
Topics:
Medicine
Notes:
Summary Human piebaldism is a rare autosomaal 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1111/j.1365-2133.1995.tb16951.x
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