Linked Life Data

9667786

Source:http://linkedlifedata.com/resource/pubmed/id/9667786

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1998-10-15
pubmed:abstractText
A kindred is reported on with suspected autosomal dominant congenital hydrocephalus and aqueduct stenosis. In contrast to patients with X-linked congenital hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) our patients were not mentally retarded and they did not show any pyramidal tract dysfunction or clasped thumbs; the pyramids were not affected either, as was confirmed by autopsy, CT or MRI. Molecular genetic studies in our patients have not revealed abnormalities of eight exons of the L1 neural adhesion molecule gene that is related to HSAS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:day
11
pubmed:volume
158
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
101-5
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression.
pubmed:affiliation
Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, Netherlands.
pubmed:publicationType
Journal Article, Review, Case Reports