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Article

OTX2 Duplication Is Implicated in Hemifacial Microsomia

9 May 2014

Abstract excerpt

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 indicated the absence of a pathogenic coding point mutation. A genome-wide survey of segmental variations identified a 1.3...

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PMID: 24816892
DOI: 10.1371/journal.pone.0096788

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