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Autosomal recessive nonsyndromic hearing loss 5
- ... pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. ... deafness. Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004. ...
- ... Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 Jul ...
- ... 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 ...
- ... 1):634. doi: 10.1038/s41598-021-04688-5. Citation on PubMed Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Feldman J, ...
- ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This ... PubMed BARTTIN CLCNK- ...
- ... results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in ... recessive form of sensorineural pre-lingual non-syndromic deafness, ...
- ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means both ... hearing loss developed retinitis pigmentosa (a vision disorder ...
- ... Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
- ... 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 ...
- About Genetics and Hearing Loss (Centers for Disease Control and Prevention)Hearing Problems in Children/Genetics ... Hearing Problems in Children ... Centers for Disease Control and Prevention ... Genes influence a child's risk for having hearing ...