Linked Life Data

19013876

Source:http://linkedlifedata.com/resource/pubmed/id/19013876

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2008-11-18
pubmed:abstractText
Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0024-7766
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
98-102
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review.
pubmed:affiliation
Department of Surgery, University of Texas Southwestern, Dallas, USA.
pubmed:publicationType
Journal Article, Review, Case Reports