|
rs104894415
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Immune system disturbances in Clouston syndrome.
|
26551294 |
2016 |
|
rs104894415
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
[A gene study of a family with hidrotic ectodermal dysplasia].
|
27817781 |
2016 |
|
rs104894415
|
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
|
24514865 |
2014 |
|
rs104894416
|
|
|
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
|
|
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
|
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].
|
23926005 |
2013 |
|
rs104894415
|
|
|
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
|
|
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
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
|
15769851 |
2005 |
|
rs104894415
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
|
15213106 |
2004 |
|
rs104894416
|
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
|
12788524 |
2003 |
|
rs104894415
|
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
|
12419304 |
2002 |
|
rs104894415
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel connexin 30 mutation in Clouston syndrome.
|
11874494 |
2002 |
|
rs104894416
|
|
|
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
|
|
|
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
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
|
11017065 |
2000 |
|
rs104894415
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
|
11017065 |
2000 |
|
rs104894416
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
|
11017065 |
2000 |
|
rs104894416
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28937872
|
|
|
0.740 |
GeneticVariation |
BEFREE |
That said, the Cx30 p.Ala88Val (A88V) mutant causes Clouston syndrome, but not hearing loss.
|
30559251 |
2019 |