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Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS, Oziębło D, Skarżyński H, Ołdak M. Gan NS, et al. Audiol Neurootol. 2023;28(5):327-337. doi: 10.1159/000529464. Epub 2023 Apr 28. Audiol Neurootol. 2023. PMID: 37121227 Free article. Review.
Around half of the diagnosed prelingual HL cases have a genetic cause and it is usually inherited in an autosomal recessive mode. Postlingual HL caused by genetic changes generally has an autosomal dominant pattern of inheritance and its incidence remains unk …
Around half of the diagnosed prelingual HL cases have a genetic cause and it is usually inherited in an autosomal recessive mo …
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.
The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non-syndromic hearing lo …
The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice c …