Molecular analysis of holoprosencephaly in South America

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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Bibliographic Details
Main Authors: Clarice Pagani Savastano, Kênia Balbi El-Jaick, Marcelo Aguiar Costa-Lima, Cristina Maria Batista Abath, Sebastiano Bianca, Denise Pontes Cavalcanti, Têmis Maria Félix, Gioacchino Scarano, Juan Clinton Llerena Jr, Fernando Regla Vargas, Miguel Ângelo Martins Moreira, Hector N. Seuánez, Eduardo Enrique Castilla, Iêda Maria Orioli
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2014-01-01
Series:Genetics and Molecular Biology
Subjects:
holoprosencephaly
ECLAMC
SHH
ZIC2
SIX3
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011&lng=en&tlng=en

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011&lng=en&tlng=en

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