SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

OBJECTIVE: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenti...

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Detalles Bibliográficos
Autores principales: Rosa, Rafael Fabiano Machado, de Moraes, Samir Abou Ghaouche, Sulczinski, Leonardo Paludo, da Silva, Filipe Augusto, Milner, Olga Gaio, Pires, Silvana Rodrigues Streit, Artigalas, Osvaldo Alfonso Pinto, Rosa, Rosana Cardoso Manique, Zen, Paulo Ricardo Gazzola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496721/
https://www.ncbi.nlm.nih.gov/pubmed/28977327
http://dx.doi.org/10.1590/1984-0462/;2017;35;2;00017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496721/
https://www.ncbi.nlm.nih.gov/pubmed/28977327
http://dx.doi.org/10.1590/1984-0462/;2017;35;2;00017

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