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Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.

Diaz-Horta O, Bademci G, Tokgoz-Yilmaz S, Guo S, Zafeer F, Sineni CJ, Duman D, Farooq A, Tekin M. Diaz-Horta O, et al. Clin Genet. 2019 Dec;96(6):575-578. doi: 10.1111/cge.13626. Epub 2019 Aug 27. Clin Genet. 2019. PMID: 31432506

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM. Schrauwen I, et al. Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14. Eur J Hum Genet. 2019. PMID: 30872814 Free PMC article. Clinical Trial.

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G. Morgan A, et al. Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1. Hum Mutat. 2019. PMID: 31397523

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