Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8074 Japanese hearing loss patients util...

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Bibliografski detalji
Izdano u:Genes (Basel)
Glavni autori: Maekawa, Karuna, Nishio, Shin-ya, Abe, Satoko, Goto, Shin-ichi, Honkura, Yohei, Iwasaki, Satoshi, Kanda, Yukihiko, Kobayashi, Yumiko, Oka, Shin-ichiro, Okami, Mayuri, Oshikawa, Chie, Sakuma, Naoko, Sano, Hajime, Shirakura, Masayuki, Uehara, Natsumi, Usami, Shin-ichi
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2019
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6826470/
https://ncbi.nlm.nih.gov/pubmed/31547530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10100735
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