Article
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Human genetics - 1 Aug 2016
Yan Denise, Tekin Demet, Bademci Guney, Foster Joseph, Cengiz F Basak, Kannan-Sundhari Abhiraami, Guo Shengru, Mittal Rahul, Zou Bing, Grati Mhamed, Kabahuma Rosemary I, Kameswaran Mohan, Lasisi Taye J, Adedeji Waheed A, Lasisi Akeem O, Menendez Ibis, Herrera Marianna, Carranza Claudia, Maroofian Reza, Crosby Andrew H, Bensaid Mariem, Masmoudi Saber, Behnam Mahdiyeh, Mojarrad Majid, Feng Yong, Duman Duygu, Mawla Alex M, Nord Alex S, Blanton Susan H, Liu Xue Z, Tekin Mustafa
Abstract excerpt
Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted...
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