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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 |
2005-9-28
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pubmed:abstractText |
Nuclear receptor-binding SET domain-containing protein 1 (NSD1) gene mutations and deletions (NSD1+/-) are the major cause of Sotos syndrome. The aim was to investigate which auxology parameters relate to NSD1+/- in patients clinically suspected of Sotos syndrome.
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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 |
Aug
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pubmed:issn |
0803-5253
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1142-4
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16188863-Abnormalities, Multiple,
pubmed-meshheading:16188863-Adolescent,
pubmed-meshheading:16188863-Adult,
pubmed-meshheading:16188863-Age Distribution,
pubmed-meshheading:16188863-Case-Control Studies,
pubmed-meshheading:16188863-Child,
pubmed-meshheading:16188863-Child, Preschool,
pubmed-meshheading:16188863-Chromosome Deletion,
pubmed-meshheading:16188863-Craniofacial Abnormalities,
pubmed-meshheading:16188863-Developmental Disabilities,
pubmed-meshheading:16188863-Female,
pubmed-meshheading:16188863-Follow-Up Studies,
pubmed-meshheading:16188863-Growth Disorders,
pubmed-meshheading:16188863-Heterozygote,
pubmed-meshheading:16188863-Humans,
pubmed-meshheading:16188863-Incidence,
pubmed-meshheading:16188863-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:16188863-Male,
pubmed-meshheading:16188863-Middle Aged,
pubmed-meshheading:16188863-Nuclear Proteins,
pubmed-meshheading:16188863-Predictive Value of Tests,
pubmed-meshheading:16188863-Reference Values,
pubmed-meshheading:16188863-Risk Assessment,
pubmed-meshheading:16188863-Sex Distribution,
pubmed-meshheading:16188863-Syndrome
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pubmed:year |
2005
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pubmed:articleTitle |
Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.
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pubmed:affiliation |
Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands.
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pubmed:publicationType |
Journal Article,
Comparative Study
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