Article

Confirmatory insights into<i>ELMOD3</i>-associated autosomal dominant non-syndromic hearing loss

2025-02-14

Abstract excerpt

Sensorineural hearing loss (SNHL) is one of the most common sensory disorders, predominantly driven by monogenic causes with a higher Mendelian contribution. Although ELMOD3 variants have been implicated in both autosomal dominant (DFNA81) and autosomal recessive (DFNB88) hereditary deafness, only a single DFNA81 family has been reported, leaving the pathogenic role of the dominant allele largely unexplored. Throu...

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Literature Corpus work: bb32c867-7712-519c-a169-5cec683c6b1f
DOI: 10.1101/2025.02.11.25321773

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