Linked Life Data

21084978

Source:http://linkedlifedata.com/resource/pubmed/id/21084978

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-12-8
pubmed:abstractText
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and macrocephaly. Here, we present a 10-year-old girl with prenatal and postnatal overgrowth, prominent forehead, pointed chin, and advanced bone age. She also has a persistent falcine sinus in the posterior falx cerebri, patent ductus arteriosus, unilateral renal agenesis, and scoliosis. A pituitary macroadenoma was also found with external compression of the inferior aspect of the optic chiasm. We identified a de novo missense mutation of the NSD1 (nuclear receptor-binding SET domain protein 1) gene in this patient. Computational three-dimensional structural analysis revealed that the NSD1 mutation induced major alterations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1473-5717
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
42-6
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.
pubmed:affiliation
Department of Pediatrics, Division of Genetics, Chung Shan Medical University, Taichung, Taiwan.
pubmed:publicationType
Journal Article, Case Reports