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Hearing "loss," autosomal dominant 37
- ... DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43 DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37 DEAFNESS, ... Fan F, Xia B, Xu P. The role of mitochondrial DNA mutations in hearing loss. Biochem Genet. 2013 Aug;51(7-8):588- ...
- ... of melanocytes in the inner ear leads to hearing loss. Decreased melanin production (hypopigmentation) ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... disorder is familial, it most often has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene ...
- ... COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of ... gene. Type V is also inherited in an autosomal dominant pattern.Less commonly, osteogenesis imperfecta has an autosomal ...
- ... TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered ... the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits ...
- ... chromosome 13 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation ...
- ... lobes. CHMP2B This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... dysplasia. COL2A1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... symptoms. HRAS This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
