Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation

In this report, we investigated audiological and otological manifestations in the ARS type 3 patient who had the novel heterozygous FOXC1 mutation leading deletion at the forkhead DNA-binding domain.

Source: Auris, Nasus, Larynx - July 29, 2020 Category: ENT & OMF Authors: Hiroshi Yamazaki, Takeshi Nakamura, Katsuhiro Hosono, Tomoya Yamaguchi, Yasuyuki Hiratsuka, Yoshihiro Hotta, Makio Takahashi Tags: Original Article Source Type: research