Source:http://linkedlifedata.com/resource/pubmed/id/11729745
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
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pubmed:dateCreated |
2001-12-3
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pubmed:abstractText |
The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far.
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pubmed:language |
ger
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0941-293X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
98
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1101-3
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11729745-Adult,
pubmed-meshheading:11729745-Child,
pubmed-meshheading:11729745-Choroid,
pubmed-meshheading:11729745-Coloboma,
pubmed-meshheading:11729745-Diseases in Twins,
pubmed-meshheading:11729745-Female,
pubmed-meshheading:11729745-Humans,
pubmed-meshheading:11729745-Hypertelorism,
pubmed-meshheading:11729745-Iris,
pubmed-meshheading:11729745-Male,
pubmed-meshheading:11729745-Neurofibromatosis 1,
pubmed-meshheading:11729745-Retina,
pubmed-meshheading:11729745-Twins, Monozygotic
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pubmed:year |
2001
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pubmed:articleTitle |
[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].
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pubmed:affiliation |
Augenklinik, Ludwig-Maximilians-Universität München, Mathildenstrasse 8, 80336 München. Guenther.Rudolph@ak-i.med.uni-muenchen.de
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
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