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20668042
Source:
http://linkedlifedata.com/resource/pubmed/id/20668042
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017337
,
umls-concept:C0019425
,
umls-concept:C0021665
,
umls-concept:C0026882
,
umls-concept:C0205314
,
umls-concept:C0332281
,
umls-concept:C0349588
,
umls-concept:C0679622
pubmed:issue
11
pubmed:dateCreated
2010-11-5
pubmed:abstractText
Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0375362
pubmed:citationSubset
AIM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Human Growth Hormone
,
http://linkedlifedata.com/resource/pubmed/chemical/Insulin-Like Growth Factor I
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1945-7197
pubmed:author
pubmed-author:De MeytsPP
,
pubmed-author:GauguinLL
,
pubmed-author:KarperienMM
,
pubmed-author:KoenigJJ
,
pubmed-author:LosekootMM
,
pubmed-author:NoordamCC
,
pubmed-author:OostdijkWW
,
pubmed-author:RuivenkampC A LCA
,
pubmed-author:WalenkampM J EMJ
,
pubmed-author:WebbG DGD
,
pubmed-author:WitJ MJM
,
pubmed-author:van DoornJJ
,
pubmed-author:van DuyvenvoordeH AHA
,
pubmed-author:van SettenP APA
pubmed:issnType
Electronic
pubmed:volume
95
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
E363-7
pubmed:dateRevised
2011-1-21
pubmed:meshHeading
pubmed-meshheading:20668042-Adult
,
pubmed-meshheading:20668042-Body Height
,
pubmed-meshheading:20668042-Child
,
pubmed-meshheading:20668042-Dwarfism
,
pubmed-meshheading:20668042-Female
,
pubmed-meshheading:20668042-Frameshift Mutation
,
pubmed-meshheading:20668042-Human Growth Hormone
,
pubmed-meshheading:20668042-Humans
,
pubmed-meshheading:20668042-Insulin-Like Growth Factor I
,
pubmed-meshheading:20668042-Male
,
pubmed-meshheading:20668042-Microcephaly
,
pubmed-meshheading:20668042-Pedigree
pubmed:year
2010
pubmed:articleTitle
Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.
pubmed:affiliation
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. h.a.van_duyvenvoorde@lumc.nl
pubmed:publicationType
Journal Article