rs28937872
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.
|
23863883 |
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
|
|
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 |
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 |
rs28937872
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Lastly, the A88V mutant, which is linked to the development of Clouston syndrome, also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism.
|
24522190 |
2014 |
rs28937872
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Lastly, the A88V mutant, which is linked to the development of Clouston syndrome, also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism.
|
24522190 |
2014 |
rs28937872
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
|
24685692 |
2014 |
rs28937872
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
|
24685692 |
2014 |
rs770612890
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
|
25262649 |
2014 |
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 |
rs104894408
|
|
|
0.010 |
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 |
Immune system disturbances in Clouston syndrome.
|
26551294 |
2016 |
rs28937872
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
|
27137747 |
2016 |
rs104894415
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
[A gene study of a family with hidrotic ectodermal dysplasia].
|
27817781 |
2016 |
rs28937872
|
|
|
0.740 |
GeneticVariation |
BEFREE |
That said, the Cx30 p.Ala88Val (A88V) mutant causes Clouston syndrome, but not hearing loss.
|
30559251 |
2019 |