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. - 18:12(2014), pp. 839-844. [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.
2014
18
12
839
844
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. - 18:12(2014), pp. 839-844. [10.1089/gtmb.2014.0185]
Stanghellini, Ilaria; Genovese, Elisabetta; Palma, Silvia; Ravani, Anna; Falcinelli, Cristina; Guarnaccia, Maria Consolatrice; Percesepe, Antonio...espandi
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1061489
Citazioni
  • ???jsp.display-item.citation.pmc??? 5
  • Scopus 5
  • ???jsp.display-item.citation.isi??? 5
social impact