Article
Hearing characteristics of Branchio-oto-renal syndrome in Japan.
Acta oto-laryngologica - 1 Jul 2026
Goto Shin-Ichi, Sasaki Akira, Nishio Shin-Ya, Morita Shin-Ya, Ogasawara Noriko, Kobayashi Yumiko, Amano Akiko, Shinkawa Chikako, Oda Kiyoshi, Wada Tetsuro, Ikezono Tetsuo, Matsuda Han, Fujisaka Michiro, Nagai Kyoko, Yoshimura Hidekane, Kashio Akinori, Nishiyama Nobuhiro, Ito Taku, Tajima Shori, Oka Shin-Ichiro, Kaga Kimitaka, Takeda Hidehiko, Kobayashi Marina, Sano Hajime, Arai Yasuhiro, Nakanishi Hiroshi, Koizumi Hiromi, Obara Natsuko, Yoshida Tadao, Esaki Tomoko, Takeuchi Kazuhiko, Yamazaki Hiroshi, Horie Rie, Ohta Yumi, Morimoto Chihiro, Uehara Natsumi, Naito Yasushi, Maeda Yukihide, Ishino Takashi, Egusa Kentaro, Sugahara Kazuma, Teraoka Masato, Kondo Eiji, Tsuchihashi Nana, Kihara Chiharu, Kanda Yukihiko, Nakamura Takeshi, Miyanohara Ikuyo, Kondo Shunsuke, Usami Shin-Ichi
Abstract excerpt
BACKGROUND: Branchio-oto-renal (BOR) syndrome is characterized by branchiogenic malformation, hearing loss, and renal anomalies, with EYA1, SIX1, and SIX5 known as the causative genes. As BOR syndrome presents with various clinical phenotypes, its characteristics and genotype-phenotype correlations remain unknown. AIMS/OBJECTIVES: In this study, we aimed to clarify the detailed hearing loss phenotypes and...
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