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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G. Hilgert N, et al. Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Mutat Res. 2009. PMID: 18804553 Free PMC article. Review.
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1. None of the genes associated with autosomal …
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is re …
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES, Kelley PM. Cohn ES, et al. Am J Med Genet. 1999 Sep 24;89(3):130-6. Am J Med Genet. 1999. PMID: 10704187 Review.
Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal …
Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier …
Autosomal recessive nonsyndromic hearing loss.
Sundstrom RA, Van Laer L, Van Camp G, Smith RJ. Sundstrom RA, et al. Am J Med Genet. 1999 Sep 24;89(3):123-9. doi: 10.1002/(sici)1096-8628(19990924)89:3<123::aid-ajmg2>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10704186 Review.
Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual severe to profound or profound hearing impairment. ...
Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual seve …