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Autosomal dominant nonsyndromic hearing loss 9
- ... mutations is the most identified subtype of nonsyndromic autosomal dominant ... Curr Mol Med. 2009 Jun;9(5):546-64. doi: 10.2174/156652409788488775. Citation ...
- ... Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa ... RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 ...
- ... Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression ...
- ... gov STICKLER SYNDROME, TYPE I; STL1 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA STICKLER SYNDROME, TYPE II; STL2 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE V; STL5 STICKLER SYNDROME, ...
- ... pheochromocytoma. KIF1B RET SDHA SDHB SDHD TMEM127 VHL Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...