Linked Life Data

16804314

Source:http://linkedlifedata.com/resource/pubmed/id/16804314

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-8-10
pubmed:databankReference
pubmed:abstractText
Noonan syndrome NS (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical facial dysmorphism, growth retardation and variable congenital heart defects. In unrelated individuals with sporadic or familial NS, heterozygous missense point mutations in the gene PTPN11 (OMIM 176876) have been confirmed, with a clustering of mutations in exons 3 and 8, the mutation A922G Asn308Asp accounting for nearly 25% of cases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0301-0163
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2006 S. Karger AG, Basel.
pubmed:issnType
Print
pubmed:volume
66
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
124-31
pubmed:dateRevised
2010-3-24
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
pubmed:affiliation
Department of Medical Genetics, University of Athens, Aghia Sophia Children's Hospital, Thivon & Levadias, Goudi, Athens, Greece. skitsiou@uoa.med.gr
pubmed:publicationType
Journal Article, Case Reports