×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
26620415
2016
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia .
27137747
2016
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Novel mutations in GJB6 and GJB2 in Clouston syndrome .
25808784
2015
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
24522190
2014
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome .
23219093
2013
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
19416251
2009
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome ) broadens its genotypic basis.
18717672
2008
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
17259707
2007
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30 , which was previously implicated in Clouston syndrome (Smith et al, 2002).
15140211
2004
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome .
11874494
2002
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Mutations in GJB6 cause hidrotic ectodermal dysplasia .
11017065
2000
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
1.000
Biomarker
CLINGEN
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
10471490
1999