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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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| Auteurs principaux: | , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2013
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| Sujets: | |
| Accès en ligne: | 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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