Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis
about
A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.Is hearing loss due to mutations in the Connexin 26 gene progressive?
P2860
Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis
description
article
@en
im Juni 2004 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2004
@uk
name
Large deletion of theGJB6gene ...... otypic and phenotypic analysis
@en
Large deletion of theGJB6gene ...... otypic and phenotypic analysis
@nl
type
label
Large deletion of theGJB6gene ...... otypic and phenotypic analysis
@en
Large deletion of theGJB6gene ...... otypic and phenotypic analysis
@nl
prefLabel
Large deletion of theGJB6gene ...... otypic and phenotypic analysis
@en
Large deletion of theGJB6gene ...... otypic and phenotypic analysis
@nl
P2093
P2860
P50
P356
P1476
Large deletion of the GJB6 gen ...... otypic and phenotypic analysis
@en
P2093
Alain Joannard
Albert David
Bruno Delobel
Bétina Montaut
Catherine Calais
Cyril Goizet
Cédric Le Maréchal
Delphine Feldmann
Didier Bouccara
Eréa-Noël Garabédian
P2860
P304
P356
10.1002/AJMG.A.20588
P407
P577
2004-06-01T00:00:00Z