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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Detalhes bibliográficos
Publicado no:Rev Paul Pediatr
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Sociedade de Pediatria de São Paulo 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5496721/
https://ncbi.nlm.nih.gov/pubmed/28977327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1984-0462/;2017;35;2;00017
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