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Huanhuan Zhao

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Open access Aug 2026

Clinical and Genetic Features in EYA1-Associated Branchio-Oto Syndrome: Cochlear Nerve Deficiency in Five of Thirteen Patients

It is suggested that CND may be a relatively common radiologic feature in EYA1-associated BOS, particularly among patients with truncating variants or large deletions, although larger studies are needed to confirm this association.

Yi-Rong Niu, Yun Lin, Jiali Yu et al. · Diagnostics · 0 citations