Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
19
pubmed:dateCreated
2006-9-28
pubmed:abstractText
A hitherto unknown combination of multiple bifid ribs, as seen in Gorlin syndrome (GS), interpedicular fusion and apparent malsegmentation of vertebral laminae at various upper thoracic levels was found in the skeleton of a newborn infant. This specific combination of anomalies is also seen in the mouse open brain (opb) mutant. Since the genes involved in GS (Patched2) and opb (rab23) both play an essential role in the hedgehog signaling pathway, it is likely that the cause of the anomalies presented here is to be sought in impaired functioning of this pathway.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1552-4825
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
140
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2135-8
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?
pubmed:affiliation
Department of Anatomy & Embryology, Academic Medical Center, University of Amsterdam, The Netherlands. r.j.oostra@amc.uva.nl
pubmed:publicationType
Journal Article, Case Reports