Linked Life Data

15264290

Source:http://linkedlifedata.com/resource/pubmed/id/15264290

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-7-20
pubmed:abstractText
We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported previously. Our report expands the phenotype of nMFS, and highlights the importance of early and careful ophthalmological assessment of these infants.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2004 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
128A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
418-21
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Primary trabeculodysgenesis in association with neonatal Marfan syndrome.
pubmed:affiliation
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.
pubmed:publicationType
Journal Article, Case Reports