Pattern of p63 mutations and their phenotypes--update. (2006)

Title Pattern of p63 mutations and their phenotypes--update.
Published in American Journal of Medical Genetics Part A, Vol. 140, p.1396-1406. ISSN 1552-4825.
Author Rinne, T.K.; Hamel, B.C.J.; Bokhoven, J.H.L.M. van; Brunner, H.G.
Date 2006
Type Article
Abstract Heterozygous mutations in the transcription factor gene p63 cause at least six different syndromes with various combinations of ectodermal dysplasia, orofacial clefting and limb malformations. Here we will present an update of mutations in the p63 gene together with a comprehensive overview of the associated clinical features in 227 patients. These data confirm the previously recognized genotype-phenotype associations. Moreover, we report that there is a large degree of clinical variability in each of the p63-associated disorders. This is illustrated by the different phenotypes that are seen for the five-hotspot mutations that explain almost 90% of all EEC syndrome patients.
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Persistent Identifier urn:nbn:nl:ui:22-2066/51059
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Source Radboud University Nijmegen

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