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