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GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?

International Journal of Pediatric Otorhinolaryngology Sep 20, 2017

Leclere JC, et al. - The clinical features of hearing impairment were comprehensively gauged in this study. In addition, investigated for the presence of correlations between the genotype in patients with GJB2 mutations. It was inferred that genotype could impact the deafness severity. Nonetheless, environmental and other genetic factors could modulate the severity and evolution of GJB2-GJB6 deafness. A new haplotype for GJB2 was elucidated but the exact mutation remained unknown.
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