Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.
Aline L PetrinLigiane A Machado-PaulaA HinkleLuke HoveyWaheed AwotoyeMichael S ChimentiBenjamin W DarbroLucilene A Ribeiro-BicudoShareef M DabdoubTabitha K PeterJ MurrayEric Van OtterlooShankar Rengasamy VenugopalanLina M Moreno-UribePublished in: medRxiv : the preprint server for health sciences (2024)
during ear development. Attempts to strengthen the genotype-phenotype co-relation underlying the OAVS of phenotypes are essential to discover the etiological factors leading to this complex and burdensome condition as well as for family counseling and prevention efforts.