A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

Abstract excerpt

Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and genetic testing was performed on two affected members using the BMGDL...

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