Associated Papers
The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
Tlili A et al.
Genes, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Low_Priority
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
Kitano T et al.
International Journal of Molecular Sciences, 2019
Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.
Lu Y et al.
International Journal of Pediatric Otorhinolaryngology, 2018
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Pater JA et al.
Human Genetics, 2017
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.
Kim MA et al.
Plos One, 2014
Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.
Charif M et al.
Indian Journal of Human Genetics, 2013
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Lee K et al.
American Journal of Medical Genetics. Part A, 2012
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