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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Bibliographic Details
Main Authors: Dina Zielinski, Barak Markus, Mona Sheikh, Melissa Gymrek, Clement Chu, Marta Zaks, Balaji Srinivasan, Jodi D Hoffman, Dror Aizenbud, Yaniv Erlich
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24816892/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24816892/?tool=EBI

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