Mutation of the EYA1 gene in patients with branchio-oto syndrome.

Abstract

Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant disorders, characterized by the presence of branchial, otic and renal anomalies of varying degrees of severity. We investigated the presence of EYA1 mutation in two unrelated patients with autosomal dominant hereditary deafness and congenital preauricular fistula. Case 1 had a… (More)

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Cite this paper

@article{Yashima2003MutationOT, title={Mutation of the EYA1 gene in patients with branchio-oto syndrome.}, author={Takatoshi Yashima and Yoshihiro Noguchi and Kinya Ishikawa and Hidehiro Mizusawa and Ken Kitamura}, journal={Acta oto-laryngologica}, year={2003}, volume={123 2}, pages={279-82} }