pubmed-article:17381453 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C0265336 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C1415077 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C0163742 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C2827424 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
pubmed-article:17381453 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
pubmed-article:17381453 | pubmed:issue | 5 | lld:pubmed |
pubmed-article:17381453 | pubmed:dateCreated | 2007-4-26 | lld:pubmed |
pubmed-article:17381453 | 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). | lld:pubmed |
pubmed-article:17381453 | pubmed:language | eng | lld:pubmed |
pubmed-article:17381453 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17381453 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:17381453 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17381453 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:17381453 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:17381453 | pubmed:month | May | lld:pubmed |
pubmed-article:17381453 | pubmed:issn | 0007-0963 | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:Chevrant-Bret... | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:HarperJ IJI | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:PrinoGG | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:BodemerCC | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:AthertonDD | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:HovnanianAA | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:KelsellD PDP | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:Mazereeuw-Hau... | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:AntilleCC | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:SauratJ-HJH | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:BitounEE | lld:pubmed |
pubmed-article:17381453 | pubmed:author | pubmed-author:ManS Y KSY | lld:pubmed |
pubmed-article:17381453 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:17381453 | pubmed:volume | 156 | lld:pubmed |
pubmed-article:17381453 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:17381453 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:17381453 | pubmed:pagination | 1015-9 | lld:pubmed |
pubmed-article:17381453 | pubmed:dateRevised | 2007-10-30 | lld:pubmed |
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pubmed-article:17381453 | pubmed:meshHeading | pubmed-meshheading:17381453... | lld:pubmed |
pubmed-article:17381453 | pubmed:year | 2007 | lld:pubmed |
pubmed-article:17381453 | pubmed:articleTitle | Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. | lld:pubmed |
pubmed-article:17381453 | pubmed:affiliation | Service de Dermatologie, Hôpital Rangueil, TSA 50032, Toulouse, France. mazereeuw-hautier.j@chu-toulouse.fr | lld:pubmed |
pubmed-article:17381453 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:17381453 | pubmed:publicationType | Review | lld:pubmed |
pubmed-article:17381453 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
entrez-gene:2706 | entrezgene:pubmed | pubmed-article:17381453 | lld:entrezgene |
http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:17381453 | lld:entrezgene |
lhgdn:association:10036 | lhgdn:found_in | pubmed-article:17381453 | lld:lhgdn |