Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum

2024-02-07 genetic and genomic medicine Title + abstract only

Show abstract

BackgroundOculoauriculovertebral Spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present genetic findings on a three-generation family affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant pattern. MethodsWe generated whole genome sequencing data for the proband, affected parent ...

Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum

Predicted journal destinations