Linked Life Data

9383023

Source:http://linkedlifedata.com/resource/pubmed/id/9383023

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-1-21
pubmed:abstractText
We report a four-generation family, with five individuals affected by osteopathia striata with cranial sclerosis (OS-CS). The family illustrates the wide spectrum of gene expression in this autosomal dominant condition. Of particular note is the unusually severe expression in the proband, who exhibits virtually all of the reported associations of the syndrome. Proximal osteolysis of the fibula and congenital urological abnormalities, in the proband, and holoprosencephaly sequence, in the proband's sister, have not previously been described in the syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
199-205
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.
pubmed:affiliation
Department of Medical Genetics, Women's and Children's Hospital, North Adelaide, South Australia.
pubmed:publicationType
Journal Article, Comparative Study, Case Reports