rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.740
GeneticVariation
BEFREE
That said, the Cx30 p.Ala88Val (A88V ) mutant causes Clouston syndrome , but not hearing loss.
30559251
2019
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
27137747
2016
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.740
GeneticVariation
BEFREE
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
24685692
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
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
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
24685692
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
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
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
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
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
15213106
2004
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.740
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
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
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
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12419304
2002
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
11017065
2000