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An Allelic Series of Trp63 Mutations Defines TAp63 as a Modifier of EEC Syndrome

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 expressi...

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Main Authors: Lindahl, Emma Vernersson, Garcia, Elvin L., Mills, Alea A.
Formato: Artigo
Idioma:Inglês
Publicado: 2013
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4066377/
https://ncbi.nlm.nih.gov/pubmed/23775923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36074
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