A Truncating GPSM2 Mutation Causes Autosomal Recessive Nonsyndromic Hearing Loss: a Case Report
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Publisher
Springer Science and Business Media LLC
Link
http://link.springer.com/content/pdf/10.1007/s42399-021-00787-6.pdf
Reference16 articles.
1. Bademci G, Foster J, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, et al. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genet Med. 2016;18(4):364–71.
2. Blumer JB, Chandler LJ, Lanier SM. Expression analysis and subcellular distribution of the two G-protein regulators AGS3 and LGN indicate distinct functionality. Localization of LGN to the midbody during cytokinesis. J Biol Chem. 2002;277(18):15897–903.
3. Konno D, Shioi G, Shitamukai A, Mori A, Kiyonari H, Miyata T, et al. Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis. Nat Cell Biol. 2008;10(1):93–101.
4. Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135(4):441–50.
5. Morton CC, Nance WE. Newborn hearing screening—a silent revolution. N Engl J Med. 2006;354(20):2151–64.
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1. An update on autosomal recessive hearing loss and loci involved in it;Indian Journal of Otology;2022
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