Source:http://linkedlifedata.com/resource/pubmed/id/20450312
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2010-5-10
|
| pubmed:abstractText |
Microcephaly and chorioretinal dysplasia is a very rare syndrome, characterized by microcephaly, chorioretinal dysplasia, mental retardation, and is phenotypically classified according to the presence of lymphedema. Among previously described patients, there has been no association with brain anomaly other than simple microcephaly, except for one case that presented with micro-lissencephaly, who had lymphedema.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
1744-5094
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
31
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
89-93
|
| pubmed:meshHeading |
pubmed-meshheading:20450312-Abnormalities, Multiple,
pubmed-meshheading:20450312-Cerebellum,
pubmed-meshheading:20450312-Child,
pubmed-meshheading:20450312-Choroid,
pubmed-meshheading:20450312-Developmental Disabilities,
pubmed-meshheading:20450312-Electroretinography,
pubmed-meshheading:20450312-Evoked Potentials, Visual,
pubmed-meshheading:20450312-Humans,
pubmed-meshheading:20450312-Magnetic Resonance Imaging,
pubmed-meshheading:20450312-Male,
pubmed-meshheading:20450312-Microcephaly,
pubmed-meshheading:20450312-Nystagmus, Congenital,
pubmed-meshheading:20450312-Retinal Dysplasia
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.
|
| pubmed:affiliation |
Department of Ophthalmology, Seoul National University College of Medicine, and Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|