A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report
Author:
Funder
Shenzhen Science and Technology Innovation Bureau
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0657-y.pdf
Reference23 articles.
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2. Morton C, Nance W. Newborn hearing screening--a silent revolution. N Engl J Med. 2006;354(20):2151–64.
3. Nance W, Lim B, Dodson K. Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss. J Clin Virol. 2006;35(2):221–5.
4. Shearer A, Smith R. Genetics: advances in genetic testing for deafness. Curr Opin Pediatr. 2012;24(6):679–86.
5. Duman D, Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed). 2012;17:2213–36.
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1. Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss;BMC Medical Genomics;2024-01-02
2. Novel Compound Heterozygous MYO15A Splicing Variants in Autosomal Recessive Non-syndromic Hearing Loss;2023-10-03
3. Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A;BMC Medical Genomics;2022-11-18
4. Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant;Hearing Research;2021-05
5. A Truncating GPSM2 Mutation Causes Autosomal Recessive Nonsyndromic Hearing Loss: a Case Report;SN Comprehensive Clinical Medicine;2021-02-06
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