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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2005-10-25
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pubmed:abstractText |
Sotos syndrome is a genetic disorder characterized primarily by overgrowth, developmental delay, and a characteristic facial gestalt. Defects in the NSD1 gene are present in approximately 80% of patients with Sotos syndrome. The goal of this study was to determine the incidence of NSD1 abnormalities in patients referred to a clinical laboratory for testing and to identify clinical criteria that distinguish between patients with and without NSD1 abnormalities.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1098-3600
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pubmed:author |
pubmed-author:AlkhateebAsemA,
pubmed-author:AnderesEthanE,
pubmed-author:DasSomaS,
pubmed-author:DempseyMelissaM,
pubmed-author:KamimuraJunichiJ,
pubmed-author:MartinChrista LeseCL,
pubmed-author:MatsumotoNaomichiN,
pubmed-author:OstrovnayaIrinaI,
pubmed-author:RacaGordanaG,
pubmed-author:SchaefferG BradleyGB,
pubmed-author:WaggonerDarrel JDJ,
pubmed-author:WelchKatherineK
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
524-33
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16247291-Child,
pubmed-meshheading:16247291-Child, Preschool,
pubmed-meshheading:16247291-Cohort Studies,
pubmed-meshheading:16247291-DNA Mutational Analysis,
pubmed-meshheading:16247291-Developmental Disabilities,
pubmed-meshheading:16247291-Female,
pubmed-meshheading:16247291-Gene Frequency,
pubmed-meshheading:16247291-Genetic Testing,
pubmed-meshheading:16247291-Growth Disorders,
pubmed-meshheading:16247291-Humans,
pubmed-meshheading:16247291-Infant,
pubmed-meshheading:16247291-Infant, Newborn,
pubmed-meshheading:16247291-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:16247291-Male,
pubmed-meshheading:16247291-Mutation,
pubmed-meshheading:16247291-Nuclear Proteins,
pubmed-meshheading:16247291-Syndrome
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pubmed:year |
2005
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pubmed:articleTitle |
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
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pubmed:affiliation |
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.
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pubmed:publicationType |
Journal Article
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