Linked Life Data

10893667

Source:http://linkedlifedata.com/resource/pubmed/id/10893667

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-11-21
pubmed:abstractText
Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear striations of tubular bones and fan-shaped configurations of the ilia. Although referred in literature as an autosomal dominant disorder the clinical pattern of partial involvement as well as the reported family observations plead for X-linked inheritance with mild striated bone affections in carrier women and severe syndromic morbidity and high mortality in the males. Sporadic affected males are probably somatic mosaics. There is no proven father-son transmission. Symptomatic osteopathia striata (OS) is characteristic in X-linked focal dermal hypoplasia Goltz-Gorlin.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
157-67
pubmed:dateRevised
2006-7-6
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance.
pubmed:affiliation
Institut für Humangenetik, Erlangen, Germany.
pubmed:publicationType
Journal Article, Review