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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Dades bibliogràfiques
Publicat a:Rev Paul Pediatr
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Sociedade de Pediatria de São Paulo 2017
Matèries:
Case Report
Accés en línia: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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