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

Aline L Petrin Ligiane A Machado-PaulaA HinkleLuke Hovey Waheed Awotoye Michael S Chimenti Benjamin W Darbro Lucilene A Ribeiro-Bicudo Shareef M Dabdoub Tabitha K PeterJ MurrayEric Van Otterloo Shankar Rengasamy Venugopalan Lina M Moreno-Uribe

Published 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.

Keyphrases

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