A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members-Reference-Cited by-同舟云学术

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members

Published:2018-01 Issue: Volume:104 Page:88-93
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Cesca Federica^ORCID,Bettella Elisa,Polli Roberta,Cama Elona,Scimemi Pietro^ORCID,Santarelli Rosamaria,Murgia Alessandra

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference33 articles.

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3. Prevalence of deafness-associated Connexin-26 ( GJB2 ) and Connexin-30 ( GJB6 ) pathogenic alleles in a large patient cohort from eastern sicily;Amorini;Ann. Hum. Genet.,2015

4. Genetic investigations in childhood deafness;Parker;Arch. Dis. Child.,2014

5. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6;O'Neill;Hum. Mol. Genet.,1996

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