Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation.
Wang H et al.
Frontiers in Cell and Developmental Biology, 2021
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Wang H et al.
Scientific Reports, 2017
Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.
Ambrosi C et al.
Plos One, 2013
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N et al.
American Journal of Medical Genetics. Part A, 2011
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
Hereditary deafness and phenotyping in humans.
Bitner-Glindzicz M
British Medical Bulletin, 2002
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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