Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

OBJECTIVE: We present three patients with congenital sensorineural hearing loss (SNHL) caused by the novel PTPRQ mutations, including clinical manifestations and phenotypic features. METHODS: Two hundred and twenty (220) Japanese subjects with sensorineural hearing loss from unrelated and non-consan...

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Bibliografski detalji
Izdano u:Ann Otol Rhinol Laryngol
Glavni autori: Sakuma, Naoko, Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Takahashi, Masahiro, Arai, Yasuhiro, Shearer, A Eliot, Sloan, Christina M, Nishio, Shin-ya, Kolbe, Diana L, Iwasaki, Satoshi, Oridate, Nobuhiko, Smith, Richard J H, Usami, Shin-ichi
Format: Artigo
Jezik:Inglês
Izdano: 2015
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4441868/
https://ncbi.nlm.nih.gov/pubmed/25788564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0003489415575041
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