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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. ...One of these genes appears to be responsible for approximately 50% of …
Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause p …
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.
With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. ...The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for mo …
With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. ...The most frequen …
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.
A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1. A broad spectrum of mutations in GJB2 has been found to be associated with hearing loss, including another deletion mutation, 167delT, whi …
A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1. A broad spec …