|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Immune system disturbances in Clouston syndrome.
|
26551294 |
2016 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
[A gene study of a family with hidrotic ectodermal dysplasia].
|
27817781 |
2016 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
|
27137747 |
2016 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
|
24514865 |
2014 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
|
24685692 |
2014 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
|
24522190 |
2014 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.
|
23981984 |
2013 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].
|
23926005 |
2013 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
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 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
|
17259707 |
2007 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
|
15769851 |
2005 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
|
15213106 |
2004 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
|
12788524 |
2003 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clouston syndrome can mimic pachyonychia congenita.
|
14708603 |
2003 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
|
12419304 |
2002 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
|
11017065 |
2000 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
|
10471490 |
1999 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
|
10471490 |
1999 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expression of the gap-junction connexins 26 and 30 in the rat cochlea.
|
9799458 |
1998 |
|
Deafness, Autosomal Dominant 3B
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|