Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been identified in HPE patients that account for only 30% of HPE cases, suggesting the existence of other HPE...

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Main Authors: Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4319975?pdf=render

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