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Review
. 2006 Jul 1;140(13):1396-406.
doi: 10.1002/ajmg.a.31271.

Pattern of p63 mutations and their phenotypes--update

Tuula Rinne  1 , Ben Hamel, Hans van Bokhoven, Han G Brunner
Affiliations
Review

Pattern of p63 mutations and their phenotypes--update

Tuula Rinne et al. Am J Med Genet A. .

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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