Linked Life Data

8834042

Source:http://linkedlifedata.com/resource/pubmed/id/8834042

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1996-12-3
pubmed:abstractText
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of connective tissue characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the soft tissues in specific anatomic and temporal patterns. We observed classic findings of FOP in 2 Native American half-sisters with the same unaffected mother and different unaffected fathers. This is the first report of FOP in sibs from different pregnancies with unaffected parents. The findings in this family indicate the possibility of maternal gonadal mosaicism in FOP and provide important new data for genetic counseling in this disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
2
pubmed:volume
61
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
320-4
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.
pubmed:affiliation
Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, USA.
pubmed:publicationType
Journal Article