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Article

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

1 Aug 2020

Abstract excerpt

BACKGROUND: The Oculo-Auriculo-Vertebral Spectrum (OAVS) or Goldenhar Syndrome is an embryonic developmental disorder characterized by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical heterogeneity of this spectrum and its incomplete penetrance limited the molecular diagnosis. In this study, we describe a novel causative gene, ZYG11B. METHODS: A sporadic case of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32738032
DOI: 10.1002/mgg3.1375

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