Linked Life Data

10929364

Source:http://linkedlifedata.com/resource/pubmed/id/10929364

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2000-12-20
pubmed:abstractText
Schmid-type metaphyseal chondrodysplasia (Schmid MCD) is an autosomal dominant chondrodysplasia resulting from various mutations in the COL10A1 gene. This disorder has been well delineated at a clinical level and has been classified radiographically as a pure metaphyseal chondrodysplasia. A missense mutation in the COL10A1 gene has also been shown to cause a rare spondylo-metaphyseal chondrodysplasia (SMD) named the "Japanese" type which, apart from exhibiting a mild spinal phenotype, shares striking clinical and radiographic similarities to Schmid MCD.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0301-0449
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
460-3
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.
pubmed:affiliation
Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars-Sinai Medical Center, Los Angeles, California, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't