DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01729.x/fullpdf
Reference9 articles.
1. Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.;Ducroq;Eur J Hum Genet,2006
2. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.;Riazuddin;Am J Hum Genet,2009
3. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.;Ahmed;Am J Hum Genet,2011
4. Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.;Ben-Yosef;Hum Mol Genet,2003
5. Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function.;Gow;J Neurosci,2004
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1. Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future;Human Genetics;2021-07-22
2. Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes;Human Genetics;2021-07-07
3. Genetic Hearing Loss and Gene Therapy;Genomics & Informatics;2018-12-31
4. Unresolved questions regarding human hereditary deafness;Oral Diseases;2016-07-11
5. Non-syndromic hearing loss gene identification: A brief history and glimpse into the future;Molecular and Cellular Probes;2015-10
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