OTX2 Duplication Is Implicated in Hemifacial Microsomia

OTX2 Duplication Is Implicated in Hemifacial Microsomia

Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indica...

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Main Authors: Zielinski, Dina (Contributor), Markus, Barak (Contributor), Sheikh, Mona (Contributor), Gymrek, Melissa A. (Contributor), Chu, Clement (Author), Zaks, Marta (Author), Srinivasan, Balaji (Author), Hoffman, Jodi D. (Author), Aizenbud, Dror (Author), Erlich, Yaniv (Contributor)
Other Authors: Harvard University- (Contributor), Whitehead Institute for Biomedical Research (Contributor)
Format: Article
Language:English
Published: Public Library of Science, 2014-07-01T19:35:24Z.
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