Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health
Reference26 articles.
1. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches;Bonnet;Curr. Opin. Neurol.,2012
2. Genetics of hearing loss: Syndromic;Koffler;Otolaryngol. Clin. N. Am.,2015
3. Genetics and pathological mechanisms of Usher syndrome;Yan;J. Hum. Genet.,2010
4. An update on the genetics of usher syndrome;Millán;J. Ophthalmol.,2011
5. Usher syndrome in Denmark: mutation spectrum and some clinical observations;Dad;Mol. Genet. Genomic Med.,2016
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment;Human Genetics;2021-06-20
2. Targeted sequencing of CDH23 and GJB2 genes in an Iranian pedigree with Usher syndrome and non-syndromic hearing loss;Gene Reports;2021-06
3. Genetic analysis of Usher syndrome associated genes in Iranian pedigrees: The prominent role of MYO7A gene;Gene Reports;2020-03
4. Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy;Frontiers in Neuroscience;2020-02-25
5. High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative;Scientific Reports;2018-11-20
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