An allelic series ofTrp63mutations defines TAp63 as a modifier of EEC syndrome

Volume: 161, Issue: 8, Pages: 1961 - 1971
Published: Jun 14, 2013
Abstract
Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in TP63, the genetic basis underlying the variable expressivity and incomplete penetrance of EEC is unknown. Here, we show that mice heterozygous for an allele encoding the Trp63 p.Arg318His mutation, which...
Paper Details
Title
An allelic series ofTrp63mutations defines TAp63 as a modifier of EEC syndrome
Published Date
Jun 14, 2013
Volume
161
Issue
8
Pages
1961 - 1971
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