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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2008-4-3
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pubmed:abstractText |
Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported so far. The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (LBR).
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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 |
Apr
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pubmed:issn |
0197-3851
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pubmed:author |
pubmed-author:AgrogiannisGeorgeG,
pubmed-author:Giannoulia-KarantanaAglaiaA,
pubmed-author:GrigoriadouMariaM,
pubmed-author:KaminopetrosPetrosP,
pubmed-author:KaradimasCharalamposC,
pubmed-author:KokotasHarisH,
pubmed-author:KonstantinidouAnastasiaA,
pubmed-author:PatsourisEfstratiosE,
pubmed-author:PetersenMichael BMB,
pubmed-author:Superti-FurgaAndreaA,
pubmed-author:WaterhamHans RHR
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pubmed:copyrightInfo |
Copyright (c) 2008 John Wiley & Sons, Ltd.
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pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
309-12
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pubmed:meshHeading |
pubmed-meshheading:18382993-Abortion, Eugenic,
pubmed-meshheading:18382993-Adult,
pubmed-meshheading:18382993-Bone Diseases, Developmental,
pubmed-meshheading:18382993-Consanguinity,
pubmed-meshheading:18382993-DNA Mutational Analysis,
pubmed-meshheading:18382993-Female,
pubmed-meshheading:18382993-Humans,
pubmed-meshheading:18382993-Hydrops Fetalis,
pubmed-meshheading:18382993-Male,
pubmed-meshheading:18382993-Ossification, Heterotopic,
pubmed-meshheading:18382993-Pregnancy,
pubmed-meshheading:18382993-Pregnancy Trimester, First,
pubmed-meshheading:18382993-Receptors, Cytoplasmic and Nuclear,
pubmed-meshheading:18382993-Ultrasonography, Prenatal
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pubmed:year |
2008
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pubmed:articleTitle |
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
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pubmed:affiliation |
Department of Pathology, National University of Athens, Greece.
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pubmed:publicationType |
Journal Article,
Case Reports
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