Article
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Journal of clinical laboratory analysis - 1 Dec 2020
Bitarafan Fatemeh, Seyedena Seyed Yousef, Mahmoudi Mahdi, Garshasbi Masoud
Abstract excerpt
BACKGROUND: The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for development, function, and maintenance of the complex auditory system makes the genetic diagnosis of this disease challenging. Up to now, 121 different genes have been identified for nonsyndromic hearing loss (NSHL), of which 76 genes are responsible for the most common forms of NSHL,...
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