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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Detalles Bibliográficos
Autores principales: Alves, Leandro Ucela, Pardono, Eliete, Otto, Paulo A., Mingroni Netto, Regina Célia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2015
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415559/
https://www.ncbi.nlm.nih.gov/pubmed/25983622
http://dx.doi.org/10.1590/S1415-475738120140125

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415559/
https://www.ncbi.nlm.nih.gov/pubmed/25983622
http://dx.doi.org/10.1590/S1415-475738120140125

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