Comprehensive analysis of syndromic hearing loss patients in Japan

Comprehensive analysis of syndromic hearing loss patients in Japan

Abstract More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing anal...

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Autores principales: Michie Ideura, Shin-ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko Kobayashi, Kenji Ohyama, Kiyoshi Oda, Takamichi Matsui, Tsukasa Ito, Hiroshi Suzumura, Kyoko Nagai, Shuji Izumi, Nobuhiro Nishiyama, Manabu Komori, Kozo Kumakawa, Hidehiko Takeda, Yoko Kishimoto, Satoshi Iwasaki, Sakiko Furutate, Kotaro Ishikawa, Masato Fujioka, Hiroshi Nakanishi, Jun Nakayama, Rie Horie, Yumi Ohta, Yasushi Naito, Mariko Kakudo, Hirofumi Sakaguchi, Yuko Kataoka, Kazuma Sugahara, Naohito Hato, Takashi Nakagawa, Nana Tsuchihashi, Yukihiko Kanda, Chiharu Kihara, Tetsuya Tono, Ikuyo Miyanohara, Akira Ganaha, Shin-ichi Usami
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/96252fd9eecb4e0fb430b805ec9cf43d
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https://doaj.org/article/96252fd9eecb4e0fb430b805ec9cf43d

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