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Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

2 Feb 2022

Abstract excerpt

Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis...

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PMID: 35110414
DOI: 10.1136/jmedgenet-2021-108219

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