Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort...
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
About this item
Full title
Author / Creator
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 and Usami, Shin-ichi
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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 patients show atypical clinical phenotypes, a...
Alternative Titles
Full title
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9034993
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9034993
Other Identifiers
ISSN
0340-6717,1432-1203
E-ISSN
1432-1203
DOI
10.1007/s00439-021-02351-7
