A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7
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Pathogenic variants in the LIM-homeodomain transcription factor LMX1A represent a rare yet critical etiology for autosomal dominant nonsyndromic hearing loss 7 (DFNA7) and less frequently, its autosomal recessive counterpart (ARNSHL). Here, we describe a novel... ...
