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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2007-4-26
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pubmed:abstractText |
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss and vascularizing keratitis. KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0007-0963
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pubmed:author |
pubmed-author:AntilleCC,
pubmed-author:AthertonDD,
pubmed-author:BitounEE,
pubmed-author:BodemerCC,
pubmed-author:Chevrant-BretonJJ,
pubmed-author:HarperJ IJI,
pubmed-author:HovnanianAA,
pubmed-author:KelsellD PDP,
pubmed-author:ManS Y KSY,
pubmed-author:Mazereeuw-HautierJJ,
pubmed-author:PrinoGG,
pubmed-author:SauratJ-HJH
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pubmed:issnType |
Print
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pubmed:volume |
156
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1015-9
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pubmed:dateRevised |
2007-10-30
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pubmed:meshHeading |
pubmed-meshheading:17381453-Abnormalities, Multiple,
pubmed-meshheading:17381453-Adolescent,
pubmed-meshheading:17381453-Adult,
pubmed-meshheading:17381453-Child,
pubmed-meshheading:17381453-Cohort Studies,
pubmed-meshheading:17381453-Connexins,
pubmed-meshheading:17381453-DNA Mutational Analysis,
pubmed-meshheading:17381453-Deafness,
pubmed-meshheading:17381453-Female,
pubmed-meshheading:17381453-Genotype,
pubmed-meshheading:17381453-Heterozygote,
pubmed-meshheading:17381453-Humans,
pubmed-meshheading:17381453-Ichthyosis,
pubmed-meshheading:17381453-Keratitis,
pubmed-meshheading:17381453-Male,
pubmed-meshheading:17381453-Middle Aged,
pubmed-meshheading:17381453-Mutation,
pubmed-meshheading:17381453-Phenotype,
pubmed-meshheading:17381453-Syndrome
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pubmed:year |
2007
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pubmed:articleTitle |
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
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pubmed:affiliation |
Service de Dermatologie, Hôpital Rangueil, TSA 50032, Toulouse, France. mazereeuw-hautier.j@chu-toulouse.fr
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pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
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