|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
That said, the Cx30 p.Ala88Val (A88V) mutant causes Clouston syndrome, but not hearing loss.
|
30559251 |
2019 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[A gene study of a family with hidrotic ectodermal dysplasia].
|
27817781 |
2016 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
|
26620415 |
2016 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
|
27137747 |
2016 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Immune system disturbances in Clouston syndrome.
|
26551294 |
2016 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
|
27137747 |
2016 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
|
27137747 |
2016 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
|
27137747 |
2016 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in GJB6 and GJB2 in Clouston syndrome.
|
25808784 |
2015 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Novel mutations in GJB6 and GJB2 in Clouston syndrome.
|
25808784 |
2015 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter.
|
24685692 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter.
|
24685692 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
|
25262649 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
|
24522190 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter.
|
24685692 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in connexin 30 are correlated with Clouston syndrome.
|
23675785 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
|
24514865 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
|
24522190 |
2014 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.
|
23981984 |
2013 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
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 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
Biomarker
|
disease |
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 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].
|
23926005 |
2013 |
|
Hidrotic Ectodermal Dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.
|
23863883 |
2013 |