Linked Life Data

10826616

Source:http://linkedlifedata.com/resource/pubmed/id/10826616

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-8-2
pubmed:abstractText
A syndrome is described in three isolated patients in whom the main features are bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases include cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia and sensorineural deafness. This combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unrecognized condition.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0962-8827
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
79-85
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?
pubmed:affiliation
Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK.
pubmed:publicationType
Journal Article, Case Reports