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Autosomal dominant nonsyndromic hearing loss 27
- ... Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. ...
- ... syndromic hearing loss. Front Cell Neurosci. 2014 Oct 27;8:354. doi: 10.3389/fncel.2014.00354. eCollection 2014. Citation on PubMed or Free article on PubMed Central Smith RJH, Azaiez H, Booth K. GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul 20]. In: ...
- ... 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018- ...