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OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia

bioRxiv

Dec 3, 2013

Dina ZielinskiYaniv Erlich

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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

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Goldenhar Syndrome With Ipsilateral Radial Defect
Goldenhar Syndrome
Study
Craniofacial
Morphologically Abnormal Structure (Morphologic Abnormality)
Cleft Palate With Cleft Lip
Genetic Pedigree
14q22
OTX2 gene
Point Mutation
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

    Goldenhar Syndrome With Ipsilateral Radial Defect
    Goldenhar Syndrome
    Study
    Craniofacial
    Morphologically Abnormal Structure (Morphologic Abnormality)
    16
    4

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