rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Immune system disturbances in Clouston syndrome.
26551294
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
[A gene study of a family with hidrotic ectodermal dysplasia].
27817781
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder.
25575739
2015
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
24514865
2014
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
The loss-of-function V37E mutant associated with Clouston syndrome or keratitis-ichthyosis-deafness syndrome was retained in the endoplasmic reticulum and significantly induced apoptosis.
24522190
2014
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
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
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
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
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].
23926005
2013
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
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
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.
23981984
2013
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.
20536673
2010
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
15769851
2005
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
15213106
2004
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
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
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
12788524
2003
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome .
14708603
2003
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
A novel connexin 30 mutation in Clouston syndrome.
11874494
2002
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome .
11874494
2002
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome .
11874494
2002
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
UNIPROT
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
rs104894414
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
0.800
GeneticVariation
UNIPROT
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
10471490
1999