Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
DeMille D et al.
American Journal of Medical Genetics. Part A, 2018
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss.
Kochhar A et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2009
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
The Laryngoscope, 2008
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.
Primignani P et al.
The Laryngoscope, 2007
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