Comprehensive analysis of syndromic hearing loss patients in Japan
Comprehensive analysis of syndromic hearing loss patients in Japan
About this item
Full title
Author / Creator
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 and Usami, Shin-ichi
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 a multiple syndromic targeted resequencing panel...
Alternative Titles
Full title
Comprehensive analysis of syndromic hearing loss patients in Japan
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_96252fd9eecb4e0fb430b805ec9cf43d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_96252fd9eecb4e0fb430b805ec9cf43d
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-019-47141-4