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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. ...
Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual seve …
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.
Mahdieh N, Rabbani B. Mahdieh N, et al. Int J Audiol. 2009;48(6):363-70. doi: 10.1080/14992020802607449. Int J Audiol. 2009. PMID: 19925344 Review.
GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. ...Mean carrier frequencies of 35delG mutation were found to be 1.89, 1.52, 0.64, 1, and 0.64 for European, American, Asian, Oc …
GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populat …
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, which has a carrier rate of abo …
A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1. A broad spectrum of mutati …