Comprehensive analysis of syndromic hearing loss patients in Japan

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 analysis with...

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Detalles Bibliográficos
Autores principales: Ideura, Michie, Nishio, Shin-ya, Moteki, Hideaki, Takumi, Yutaka, Miyagawa, Maiko, Sato, Teruyuki, Kobayashi, Yumiko, Ohyama, Kenji, Oda, Kiyoshi, Matsui, Takamichi, Ito, Tsukasa, Suzumura, Hiroshi, Nagai, Kyoko, Izumi, Shuji, Nishiyama, Nobuhiro, Komori, Manabu, Kumakawa, Kozo, Takeda, Hidehiko, Kishimoto, Yoko, Iwasaki, Satoshi, Furutate, Sakiko, Ishikawa, Kotaro, Fujioka, Masato, Nakanishi, Hiroshi, Nakayama, Jun, Horie, Rie, Ohta, Yumi, Naito, Yasushi, Kakudo, Mariko, Sakaguchi, Hirofumi, Kataoka, Yuko, Sugahara, Kazuma, Hato, Naohito, Nakagawa, Takashi, Tsuchihashi, Nana, Kanda, Yukihiko, Kihara, Chiharu, Tono, Tetsuya, Miyanohara, Ikuyo, Ganaha, Akira, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700179/
https://www.ncbi.nlm.nih.gov/pubmed/31427586
http://dx.doi.org/10.1038/s41598-019-47141-4

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