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Autosomal recessive nonsyndromic hearing loss 14
- ... pattern. About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these ... for hearing.The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations ...
- ... on PubMed Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- ... three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718. ...
- ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4): ... Najmabadi H, Smith RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 ...
- ... mutations are the most common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all cases. This form of the disorder is described as nonsyndromic, which means that it is not associated with ...
- ... gene mutations have been identified in people with nonsyndromic hearing loss, which is loss of hearing that is not ... Mutations in this gene cause a form of nonsyndromic hearing loss called DFNB4. This form of hearing loss can ...
- ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition At least 76 ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS ...
