15691545

Source:http://linkedlifedata.com/resource/pubmed/id/15691545

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0265336, umls-concept:C1280464, umls-concept:C1299003
pubmed:issue	2
pubmed:dateCreated	2005-2-4
pubmed:abstractText	Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and vascularizing keratitis. Mutations in the GJB2 gene coding for connexin 26, a component of gap junctions in epithelial cells, have been observed in several KID patients. Variable ocular manifestations of the disease in 3 patients with molecular genetically confirmed KID syndrome are reported.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7802443
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Connexins, http://linkedlifedata.com/resource/pubmed/chemical/Ophthalmic Solutions, http://linkedlifedata.com/resource/pubmed/chemical/connexin 26
pubmed:status	MEDLINE
pubmed:month	Feb
pubmed:issn	1549-4713
pubmed:author	pubmed-author:JaneckeA RAR, pubmed-author:KampikAA, pubmed-author:KenyonK RKR, pubmed-author:MessmerE MEM, pubmed-author:RittingerOO
pubmed:issnType	Electronic
pubmed:volume	112
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	e1-6
pubmed:dateRevised	2005-10-6
pubmed:meshHeading	pubmed-meshheading:15691545-Adolescent, pubmed-meshheading:15691545-Adult, pubmed-meshheading:15691545-Child, Preschool, pubmed-meshheading:15691545-Connexins, pubmed-meshheading:15691545-Corneal Neovascularization, pubmed-meshheading:15691545-Corneal Stroma, pubmed-meshheading:15691545-Deafness, pubmed-meshheading:15691545-Eye Diseases, pubmed-meshheading:15691545-Eyelashes, pubmed-meshheading:15691545-Eyelid Diseases, pubmed-meshheading:15691545-Female, pubmed-meshheading:15691545-Hair Diseases, pubmed-meshheading:15691545-Humans, pubmed-meshheading:15691545-Ichthyosiform Erythroderma, Congenital, pubmed-meshheading:15691545-Keratitis, pubmed-meshheading:15691545-Keratoconjunctivitis Sicca, pubmed-meshheading:15691545-Male, pubmed-meshheading:15691545-Mutation, pubmed-meshheading:15691545-Ophthalmic Solutions, pubmed-meshheading:15691545-Retrospective Studies, pubmed-meshheading:15691545-Syndrome, pubmed-meshheading:15691545-Visual Acuity
pubmed:year	2005
pubmed:articleTitle	Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
pubmed:affiliation	Department of Ophthalmology, Ludwig-Maximilians-University, Munich, Germany.
pubmed:publicationType	Journal Article, Case Reports