Advances in Human Genetics by Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry
By Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry Harris, Kurt Hirschhorn (eds.)
From experiences of prior volumes within the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The so much lucid and stimulating discussions of the subject to be discovered anywhere.'-American Scientist
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W results from deficient proliferation of melanoblasts prior to migration during development. , 1994b). The first direct evidence for the involvement of KIT mutations in human piebaldism came from Giebel and Spritz (1991), who studied an extended kindred with piebaldism and identified a missense mutation, G664R, within the highly conserved intracellular tyrosine kinase domain, and demonstrated linkage with a lod score in excess of 6 with no recombinants . , 1992a). As shown in Table IV and Fig.
1992; Chatkupt et al. , 1993; Kromberg and Krause, 1993) occur at increased frequencies among affected individuals. Waardenburg syndrome has thus been considered a more general disorder of neural crest development than piebaldism . Three subtypes of Waardenburg syndrome have been clinically distinguished; Waardenburg syndrome type I (WS/) is the classic form , Waardenburg syndrome type II (WS2; MIM #193510) lacks dystopia canthorum, and Waardenburg syndrome type III (WS3; Klein-Waardenburg syndrome; MIM #148820) is associated with limb abnormalities as well as dystopia canthorum.