The aim of the study is to report the new and rare GJB2 variants identified in individuals with nonsyndromic sensorineural hearing impairment (HI) in a retrospective study based on 498 patients referred to the Otolaryngology and Medical Genetics Units of the Modena University Hospital, Italy, with the purpose of building new genotype/auditory phenotype correlations for the GJB2 gene.
New and Rare GJB2 Alleles in Patients with Nonsyndromic Sensorineural Hearing Impairment: A Genotype/Auditory Phenotype Correlation / Stanghellini, Ilaria; Genovese, Elisabetta; Palma, Silvia; Ravani, Anna; Falcinelli, Cristina; Guarnaccia, Maria Consolatrice; Percesepe, Antonio. - In: GENETIC TESTING AND MOLECULAR BIOMARKERS. - ISSN 1945-0265. - STAMPA. - 18:(2014), pp. 839-44-844. [10.1089/gtmb.2014.0185]
New and Rare GJB2 Alleles in Patients with Nonsyndromic Sensorineural Hearing Impairment: A Genotype/Auditory Phenotype Correlation
STANGHELLINI, ILARIA;GENOVESE, Elisabetta;FALCINELLI, Cristina;PERCESEPE, Antonio
2014
Abstract
The aim of the study is to report the new and rare GJB2 variants identified in individuals with nonsyndromic sensorineural hearing impairment (HI) in a retrospective study based on 498 patients referred to the Otolaryngology and Medical Genetics Units of the Modena University Hospital, Italy, with the purpose of building new genotype/auditory phenotype correlations for the GJB2 gene.
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