Condition: Deafness, Autosomal Dominant 3B


rs104894414 in GJB6 gene and Deafness, Autosomal Dominant 3B PMID 10471490 1999 Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

PMID 26551294 2016 Immune system disturbances in Clouston syndrome.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

PMID 24685692 2014 The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.

PMID 24522190 2014 Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.

PMID 27137747 2016 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

PMID 14708603 2003 Clouston syndrome can mimic pachyonychia congenita.

PMID 23863883 2013 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

PMID 17259707 2007 Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.