Article
The LINC complex is essential for hearing.
The Journal of clinical investigation - 1 Feb 2013
Horn Henning F, Brownstein Zippora, Lenz Danielle R, Shivatzki Shaked, Dror Amiel A, Dagan-Rosenfeld Orit, Friedman Lilach M, Roux Kyle J, Kozlov Serguei, Jeang Kuan-Teh, Frydman Moshe, Burke Brian, Stewart Colin L, Avraham Karen B
Abstract excerpt
Hereditary hearing loss is the most common sensory deficit. We determined that progressive high-frequency hearing loss in 2 families of Iraqi Jewish ancestry was due to homozygosity for the protein truncating mutation SYNE4 c.228delAT. SYNE4, a gene not previously associated with hearing loss, en...
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