|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
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|
pubmed:dateCreated |
2006-8-22
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|
pubmed:abstractText |
The authors report a three-generation family with four male patients presenting with a novel type of X-chromosomal leukoencephalopathy associated with skeletal abnormalities.
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
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|
pubmed:status |
MEDLINE
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pubmed:month |
Aug
|
|
pubmed:issn |
1526-632X
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|
pubmed:author |
pubmed-author:AnX XXX,
pubmed-author:BohnHH,
pubmed-author:GasJJ,
pubmed-author:HübnerC ACA,
pubmed-author:HahnAA,
pubmed-author:KohlschütterAA,
pubmed-author:NeubauerB ABA,
pubmed-author:Neumaier-ProbstEE,
pubmed-author:OppermannH CHC,
pubmed-author:StefanovaII,
pubmed-author:StephanoSS
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|
pubmed:issnType |
Electronic
|
|
pubmed:day |
22
|
|
pubmed:volume |
67
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
587-91
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|
pubmed:dateRevised |
2006-10-12
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|
pubmed:meshHeading |
pubmed-meshheading:16924009-Adult,
pubmed-meshheading:16924009-Brain Diseases,
pubmed-meshheading:16924009-Chromosome Mapping,
pubmed-meshheading:16924009-Chromosomes, Human, X,
pubmed-meshheading:16924009-Genetic Predisposition to Disease,
pubmed-meshheading:16924009-Heterozygote,
pubmed-meshheading:16924009-Humans,
pubmed-meshheading:16924009-Male,
pubmed-meshheading:16924009-Osteochondrodysplasias,
pubmed-meshheading:16924009-Pedigree
|
|
pubmed:year |
2006
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|
pubmed:articleTitle |
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
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|
pubmed:affiliation |
Department of Pediatric Neurology, Universities of Giessen. Bernd.A.Neubauer@paediat.med.uni-giessen.de
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
