Linked Life Data

11956774

Source:http://linkedlifedata.com/resource/pubmed/id/11956774

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
2002-4-16
pubmed:abstractText
Five members of a family are described, all of whom suffered from chronic constipation and megacolon. Detailed clinical and histologic evaluation of each member revealed that two individuals have histologic evidence of desmosis coli and three have Hirschsprung's disease, one of whom also has desmosis coli. The latter combination has never been described before, either in a family or in a single patient. Genetic studies of the family did not reveal an increase in the number of shared markers for the RET proto-oncogene, suggesting that this previously undescribed familial association is likely not caused by a mutation in the RET gene, but by other genetic abnormalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0179-0358
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
110-4
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Chronic constipation due to Hirschsprung's disease and desmosis coli in a family.
pubmed:affiliation
Department of Surgery, University of Western Ontario, London, Ontario, Canada.
pubmed:publicationType
Journal Article, Case Reports