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Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B. Shadab M, et al. J Cell Mol Med. 2024 Apr;28(8):e18119. doi: 10.1111/jcmm.18119. J Cell Mol Med. 2024. PMID: 38534090 Free PMC article. Review.
In this review, we discuss the most common autosomal recessive non-syndromic hearing loss genes in Pakistani individuals as well as the genetic mapping and sequencing approaches used to discover them. Furthermore, we identified enriched gene ontology terms and commo …
In this review, we discuss the most common autosomal recessive non-syndromic hearing loss genes in Pakistani individuals as we …
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G. Hilgert N, et al. Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Mutat Res. 2009. PMID: 18804553 Free PMC article. Review.
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1. None of the genes associated with autosomal …
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is re …