Genetic testing for deafness—GJB2 and SLC26A4 as causes of deafness
Author:
Publisher
Elsevier BV
Subject
LPN and LVN,Speech and Hearing,Cognitive Neuroscience,Linguistics and Language,Experimental and Cognitive Psychology
Reference26 articles.
1. Parental attitudes toward genetic testing for pediatric deafness;Brunger;The American Journal of Human Genetics,2000
2. Connections with connexins: The molecular basis of direct intercellular signaling;Bruzzone;The European Journal of Biochemistry,1996
3. Pendred syndrome, DFNB4 and PDS—identification of eight novel mutations and phenotype-genotype correlations;Campbell;Human Mutation,2001
4. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene;Cohn;Pediatrics,1999
5. The M34T allele variant of Connexin 26;Cucci;Genetic Testing,2001
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1. Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta‐analysis;International Journal of Pediatric Otorhinolaryngology;2023-05
2. Congenital Hearing Loss;Textbook of Clinical Otolaryngology;2020-12-21
3. Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss;Bioscience Reports;2019-03
4. Les surdités d’origine génétique;La Presse Médicale;2017-11
5. Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes;Molecular Medicine Reports;2016-05-13
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