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Autosomal dominant nonsyndromic hearing loss 30
- ... an autosomal dominant pattern. Mutations in at least 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 ...
- ... gov STICKLER SYNDROME, TYPE I; STL1 ... Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7- ...
- ... more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 ... accounting for 20 to 30 percent of all cases. At least 35 genes ...
- ... Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression ...
- ... should. FGFR3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. FGFR3-associated coronal synostosis Muenke nonsyndromic coronal craniosynostosis Genetic Testing Registry: Muenke syndrome Muenke ...