Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
Thashi BharadwajIsabelle SchrauwenAnushree AcharyaLiz M Nouel SaiedMarja-Leena VäisänenMinna KraatariElisa RahikkalaIrma JarvelaJouko KotimäkiRegie Lyn P Santos-CortezPublished in: Molecular genetics & genomic medicine (2022)
We report two Finnish families with hearing impairment due to the CABP2 splice site variant c.637+1G>T.