Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness u...
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
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Full title
Author / Creator
Boucher, Sophie , Tai, Fabienne Wong Jun , Delmaghani, Sedigheh , Lelli, Andrea , Singh-Estivalet, Amrit , Dupont, Typhaine , Niasme-Grare, Magali , Michel, Vincent , Wolff, Nicolas , Bahloul, Amel , Bouyacoub, Yosra , Bouccara, Didier , Fraysse, Bernard , Deguine, Olivier , Collet, Lionel , Thai-Van, Hung , Ionescu, Eugen , Kemeny, Jean-Louis , Giraudet, Fabrice , Lavieille, Jean-Pierre , Devèze, Arnaud , Roudevitch-Pujol, Anne-Laure , Vincent, Christophe , Renard, Christian , Franco-Vidal, Valérie , Thibult-Apt, Claire , Darrouzet, Vincent , Bizaguett, Eric , Coez, Arnaud , Aschard, Hugues , Michalski, Nicolas , Lefevre, Gaëlle M. , Aubois, Anne , Avan, Paul , Bonnet, Crystel and Petit, Christine
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathogenic variants, considered indicative of Mendelian forms. We focused on severe presbycusis without environmental or comorbidit...
Alternative Titles
Full title
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
Authors, Artists and Contributors
Author / Creator
Tai, Fabienne Wong Jun
Delmaghani, Sedigheh
Lelli, Andrea
Singh-Estivalet, Amrit
Dupont, Typhaine
Niasme-Grare, Magali
Michel, Vincent
Wolff, Nicolas
Bahloul, Amel
Bouyacoub, Yosra
Bouccara, Didier
Fraysse, Bernard
Deguine, Olivier
Collet, Lionel
Thai-Van, Hung
Ionescu, Eugen
Kemeny, Jean-Louis
Giraudet, Fabrice
Lavieille, Jean-Pierre
Devèze, Arnaud
Roudevitch-Pujol, Anne-Laure
Vincent, Christophe
Renard, Christian
Franco-Vidal, Valérie
Thibult-Apt, Claire
Darrouzet, Vincent
Bizaguett, Eric
Coez, Arnaud
Aschard, Hugues
Michalski, Nicolas
Lefevre, Gaëlle M.
Aubois, Anne
Avan, Paul
Bonnet, Crystel
Petit, Christine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7733833
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7733833
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.2010782117
