Molecular analysis of holoprosencephaly in South America

Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derive...

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Detalles Bibliográficos
Autores principales: Savastano, Clarice Pagani, El-Jaick, Kênia Balbi, Costa-Lima, Marcelo Aguiar, Abath, Cristina Maria Batista, Bianca, Sebastiano, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Scarano, Gioacchino, Llerena, Juan Clinton, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Seuánez, Hector N., Castilla, Eduardo Enrique, Orioli, Iêda Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983586/
https://www.ncbi.nlm.nih.gov/pubmed/24764759

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