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Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome

Most cases with Kabuki syndrome (KS) have been reported sporadically, however familial cases of KS are described showing evidence that this syndrome is inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of Kabuki syndrom...

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Detalhes bibliográficos
Main Authors: Kokitsu-Nakata, Nancy Mizue, Petrin, Aline Lourenço, Heard, Jason Paul, Vendramini-Pittoli, Siulan, Henkle, Laura E, dos Santos, Daniela Vera Cruz, Murray, Jeffrey Clark, Richieri-Costa, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3724514/
https://ncbi.nlm.nih.gov/pubmed/22740433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35454
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