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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Опубликовано в: :Rev Paul Pediatr
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Sociedade de Pediatria de São Paulo 2017
Предметы:
Case Report
Online-ссылка: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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