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Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
Dis Model Mech. 2023 Aug 1;16(8):dmm049757. doi: 10.1242/dmm.049757. Epub 2023 Aug 17.
Dis Model Mech. 2023.
PMID: 37165931
Free PMC article.
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics; van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.
Zazo Seco C, et al. Among authors: serrao de castro l.
Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.
Am J Hum Genet. 2015.
PMID: 26522471
Free PMC article.
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