Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

Abstract

BackgroundOculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Although numerous chromosomal...