Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patient...

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Detalles Bibliográficos
Autores principales: Iwasa, Yoh-ichiro, Nishio, Shin-ya, Yoshimura, Hidekane, Sugaya, Akiko, Kataoka, Yuko, Maeda, Yukihide, Kanda, Yukihiko, Nagai, Kyoko, Naito, Yasushi, Yamazaki, Hiroshi, Ikezono, Tetsuo, Matsuda, Han, Nakai, Masako, Tona, Risa, Sakurai, Yuika, Motegi, Remi, Takeda, Hidehiko, Kobayashi, Marina, Kihara, Chiharu, Ishino, Takashi, Morita, Shin-ya, Iwasaki, Satoshi, Takahashi, Masahiro, Furutate, Sakiko, Oka, Shin-ichiro, Kubota, Toshinori, Arai, Yasuhiro, Kobayashi, Yumiko, Kikuchi, Daisuke, Shintani, Tomoko, Ogasawara, Noriko, Honkura, Yohei, Izumi, Shuji, Hyogo, Misako, Ninoyu, Yuzuru, Suematsu, Mayumi, Nakayama, Jun, Tsuchihashi, Nana, Okami, Mayuri, Sakata, Hideaki, Yoshihashi, Hiroshi, Kobayashi, Taisuke, Kumakawa, Kozo, Yoshida, Tadao, Esaki, Tomoko, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034993/
https://www.ncbi.nlm.nih.gov/pubmed/34536124
http://dx.doi.org/10.1007/s00439-021-02351-7

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