Article

OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia

2013-12-03

Abstract excerpt

<h4>ABSTRACT</h4> 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. Here, we investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. We performed whole-exome sequencing and a genome-wide survey of segmental variations. Analysis of the exome sequencing results in...

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Literature Corpus work: 99883a89-462f-5617-a8af-fdf9af7c6400
DOI: 10.1101/001099

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