Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future
Author:
Funder
National Institute on Deafness and Other Communication Disorders
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-021-02309-9.pdf
Reference154 articles.
1. Adadey SM, Wonkam-Tingang E, Twumasi Aboagye E et al (2020) Connexin genes variants associated with non-syndromic hearing impairment: a systematic review of the global burden. Life 10:258. https://doi.org/10.3390/life10110258
2. Ahmad J, Khan SN, Khan SY et al (2005) DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum Genet 116:407–412. https://doi.org/10.1007/s00439-004-1247-y
3. Ahmed ZM, Morell RJ, Riazuddin S et al (2003a) Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet 72:1315–1322. https://doi.org/10.1086/375122
4. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL (2003b) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. https://doi.org/10.1093/hmg/ddg358
5. Ahmed ZM, Yousaf R, Lee BC et al (2011) Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet 88:19–29. https://doi.org/10.1016/j.ajhg.2010.11.010
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