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Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit cr...

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Detalhes bibliográficos
Main Authors: Barrow, L, van Bokhoven, H, Daack-Hirsch, S, Andersen, T, van Beersum, S E C, Gorlin, R, Murray, J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735218/
https://ncbi.nlm.nih.gov/pubmed/12161593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.8.559
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