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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1999-3-29
|
| pubmed:abstractText |
We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
82
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
187-93
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9934987-Abnormalities, Multiple,
pubmed-meshheading:9934987-Adult,
pubmed-meshheading:9934987-Facies,
pubmed-meshheading:9934987-Female,
pubmed-meshheading:9934987-Heart Defects, Congenital,
pubmed-meshheading:9934987-Humans,
pubmed-meshheading:9934987-Intellectual Disability,
pubmed-meshheading:9934987-Skin Abnormalities,
pubmed-meshheading:9934987-Syndrome
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Costello syndrome: report and review.
|
| pubmed:affiliation |
Emma Kinderziekenhuis AMC, Department of Pediatrics, University of Amsterdam, The Netherlands.
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports
|