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OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia

bioRxiv

Dec 3, 2013

Dina ZielinskiYaniv Erlich

Abstract

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...read more

Mentioned in this Paper

Genome-Wide Association Study
Study
Hemifacial Microsomia
Genes
Pathogenic Organism
Otx2
Morphologically Abnormal Structure (Morphologic Abnormality)
Genetic Pedigree
Whole Exome Sequencing
Etiology
16
4
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OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia

bioRxiv

Dec 3, 2013

Dina ZielinskiYaniv Erlich

PMID: 990001099

DOI: 10.1101/001099

Abstract

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...read more

Mentioned in this Paper

Genome-Wide Association Study
Study
Hemifacial Microsomia
Genes
Pathogenic Organism
Otx2
Morphologically Abnormal Structure (Morphologic Abnormality)
Genetic Pedigree
Whole Exome Sequencing
Etiology
16
4

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Paper Details
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  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
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