Comprehensive analysis of syndromic hearing loss patients in Japan
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Published:2019-08-19
Issue:1
Volume:9
Page:
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ISSN:2045-2322
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Container-title:Scientific Reports
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language:en
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Short-container-title:Sci Rep
Author:
Ideura Michie, Nishio Shin-yaORCID, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito TsukasaORCID, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka MasatoORCID, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara KazumaORCID, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-ichiORCID
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Reference60 articles.
1. Morton, C. C. & Nance, W. E. Newborn hearing screening-a silent revolution. N. Engl. J. Med. 354, 2151–2164 (2006). 2. Alford, R. L. et al. American college of medical genetics and genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet. Med. 16, 347–355 (2014). 3. Fraser, F. C., Sproule, J. R. & Halal, F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am. J. Med. Genet. 7, 341–349 (1980). 4. Chang, E. H. et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum. Mutat. 23, 582–589 (2004). 5. Waardenburg, P. J. A new syndrome combining developmental anomalies of the eyelids, eye brows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am. J. Hum. Genet. 3, 195–253 (1951).
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