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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2003-8-19
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pubmed:abstractText |
Spondyloepimetaphyseal dysplasia (SEMD) is one of a clinically heterogeneous group of skeletal disorders, characterized by defective growth and modelling of the spine and long bones. Common clinical features include disproportionate short stature, malformed vertebrae and abnormal epiphyses or metaphyses. Some cases have been associated with mutations in the COL2A1 gene.
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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 |
Sep
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pubmed:issn |
1460-2725
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
96
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
663-71
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:12925722-Aspartic Acid,
pubmed-meshheading:12925722-Child,
pubmed-meshheading:12925722-Collagen Type II,
pubmed-meshheading:12925722-Congenital Abnormalities,
pubmed-meshheading:12925722-DNA Restriction Enzymes,
pubmed-meshheading:12925722-Exons,
pubmed-meshheading:12925722-Glycine,
pubmed-meshheading:12925722-Humans,
pubmed-meshheading:12925722-Male,
pubmed-meshheading:12925722-Mutation,
pubmed-meshheading:12925722-Osteochondrodysplasias,
pubmed-meshheading:12925722-Pedigree,
pubmed-meshheading:12925722-Phenotype,
pubmed-meshheading:12925722-Polymerase Chain Reaction,
pubmed-meshheading:12925722-Sequence Analysis, DNA
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pubmed:year |
2003
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pubmed:articleTitle |
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
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pubmed:affiliation |
Connective Tissue Genetics Group, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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