PMID: 9527113Apr 4, 1998Paper

Passage to India: the search for genes causing autosomal recessive nonsyndromic hearing loss

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
R I ZbarR J Smith

Abstract

Hereditary hearing impairment affects approximately 0.05% of all children born in the United States. It is most commonly autosomal recessive, nonsyndromic, and monogenic [autosomal recessive nonsyndromic hearing loss (ARNSHL)]. Although the number of disease loci is not known, some estimates exceed 100. Using a strategy of homozygosity mapping to localize ARNSHL genes by screening consanguineous families for chromosomal regions that are homozygous by descent, we have mapped several genes in multiplex, nuclear, consanguineous families in Tamil Nadu, India. From the mean frequency of the ARNSHL genes in this population, the total number of disease genes is estimated to be 57.

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Citations

Nov 30, 1999·International Journal of Pediatric Otorhinolaryngology·R J Smith, G Van Camp
Nov 20, 1998·The New England Journal of Medicine·R J MorellT B Friedman
Aug 2, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Amit KochharRichard J H Smith
Apr 27, 2005·International Journal of Pediatric Otorhinolaryngology·Josef Finsterer, Johannes Fellinger
Mar 7, 2000·American Journal of Medical Genetics·R A SundstromR J Smith
Jul 13, 2000·British Journal of Audiology·R J Smith, G Van Camp
Jan 29, 2003·Human Mutation·Hossein NajmabadiUNKNOWN Iranian Human Mutation Gene Bank
May 18, 2020·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Jayasankaran ChandruC R Srikumari Srisailapathy

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