Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Sign Up to like & getrecommendations! Published in 2022 at "Human genetics"
DOI: 10.1007/s00439-022-02431-2
Abstract: Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). Our series of studies demonstrated that CDH23 variants cause a broad… read more here.
Keywords: syndromic hearing; loss; non syndromic; variants cdh23 ... See more keywords