Associated Papers
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ et al.
International Journal of Molecular Sciences, 2023
Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.
Tian X et al.
Frontiers in Genetics, 2022
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Bedoukian EC et al.
Molecular Genetics & Genomic Medicine, 2021
[The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].
Huang S et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2014
R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
Jiang SJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
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
Gap junctions: basic structure and function.
Meşe G et al.
The Journal of Investigative Dermatology, 2007
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.
Bondeson ML et al.
Acta Dermato-venereologica, 2006
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
Richard G et al.
The Journal of Investigative Dermatology, 2004
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
Select a paper to view details