A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Br...

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Bibliographic Details
Main Authors: Leandro Ucela Alves, Eliete Pardono, Paulo A. Otto, Regina Célia Mingroni Netto
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2015-03-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100037&lng=en&tlng=en