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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Bibliographic Details
Main Authors: Zielinski, Dina, Markus, Barak, Sheikh, Mona, Gymrek, Melissa A., Chu, Clement, Zaks, Marta, Srinivasan, Balaji, Hoffman, Jodi D., Aizenbud, Dror, Erlich, Yaniv
Other Authors: Harvard University--MIT Division of Health Sciences and Technology
Format: Article
Language:en_US
Published: Public Library of Science 2014
Online Access:http://hdl.handle.net/1721.1/88172
https://orcid.org/0000-0002-6086-3903