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 PeterPatrick J BrehenyJ MurrayEric Van OtterlooShankar Rengasamy VenugopalanLina M Moreno-UribePublished in: medRxiv : the preprint server for health sciences (2024)
during ear development. Efforts to strengthen the genotype-phenotype co-relation underlying the OAVS are key to discover etiology, family counseling and prevention.
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