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Analysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene
EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene. In this study, we showed that K193E mutation in nine affected individuals of a four-generation...
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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Public Library of Science
2012
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3344828/ https://ncbi.nlm.nih.gov/pubmed/22574117 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0035337 |
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