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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2010-3-10
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pubmed:abstractText |
Sotos syndrome is characterized by overgrowth, facial dysmorphism and learning impairment. Haploinsufficiency of NSD1 accounts for approximately 60-90% of the patients. Consequently, a considerable number of patients with features of Sotos syndrome remain without a molecular diagnosis. To date, target-gene approaches in these patients have not been successful.
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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:issn |
1663-2826
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pubmed:author |
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pubmed:copyrightInfo |
Copyright (c) 2010 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
265-74
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:20215773-Abnormalities, Multiple,
pubmed-meshheading:20215773-Adolescent,
pubmed-meshheading:20215773-Adult,
pubmed-meshheading:20215773-Child,
pubmed-meshheading:20215773-Child, Preschool,
pubmed-meshheading:20215773-DNA,
pubmed-meshheading:20215773-Facies,
pubmed-meshheading:20215773-Female,
pubmed-meshheading:20215773-Genome-Wide Association Study,
pubmed-meshheading:20215773-Gigantism,
pubmed-meshheading:20215773-Humans,
pubmed-meshheading:20215773-Intellectual Disability,
pubmed-meshheading:20215773-Male,
pubmed-meshheading:20215773-Middle Aged,
pubmed-meshheading:20215773-Polymorphism, Single Nucleotide,
pubmed-meshheading:20215773-Syndrome,
pubmed-meshheading:20215773-X Chromosome Inactivation,
pubmed-meshheading:20215773-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Genome-wide SNP array analysis in patients with features of sotos syndrome.
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pubmed:affiliation |
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. r.visser @ lumc.nl
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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