Analysis of the GJB2 and GJB6 Genes in Italian Patients with Nonsyndromic Hearing Loss: Frequencies, Novel Mutations, Genotypes, and Degree of Hearing Loss-Reference-Cited by-同舟云学术

Analysis of the GJB2 and GJB6 Genes in Italian Patients with Nonsyndromic Hearing Loss: Frequencies, Novel Mutations, Genotypes, and Degree of Hearing Loss

Published:2009-04 Issue:2 Volume:13 Page:209-217
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Primignani Paola¹,Trotta Luca¹,Castorina Pierangela²³,Lalatta Faustina²,Sironi Francesca¹,Radaelli Chiara¹,Degiorgio Dario¹,Curcio Cristina¹,Travi Maurizio¹,Ambrosetti Umberto³,Cesarani Antonio³,Garavelli Livia⁴,Formigoni Patrizia⁵,Milani Donatella⁶,Murri Alessandra⁷,Cuda Domenico⁷,Coviello Domenico Antonio¹

Affiliation:

1. Laboratorio di Genetica Medica—Settore di Genetica Molecolare, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena—Milano, Milan, Italy.

2. Dipartimento Area Salute della Donna, del Bambino e del Neonato—Servizio di Genetica Medica, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena—Milano, Milan, Italy.

3. Dipartimento di Scienze Chirurgiche Specialistiche, U.O. di Audiologia—Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena—Milano, Milan, Italy.

4. Struttura Semplice di Genetica Medica—Arcispedale S. Maria Nuova, Reggio Emilia, Italy.

5. SC di ORL—Arcispedale S. Maria Nuova, Reggio Emilia, Italy.

6. I Clinica Pediatrica—Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena—Milano, Milan, Italy.

7. U.O. “Otorinolaringoiatria”—Ospedale “Guglielmo da Saliceto,” Piacenza, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2008.0086

Reference41 articles.

1. GJB2: The spectrum of deafness-causing allele variants and their phenotype