Ontology highlight
ABSTRACT:
SUBMITTER: Steinlein OK
PROVIDER: S-EPMC3270005 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
BMC medical genetics 20111122
<h4>Background</h4>Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. This raised the question if the patients in the first report indeed had isolated Osteogenesis imperfecta or if Bruck syndrome would have been the better diagnosis.<h4>Methods</h4>The patients described here are af ...[more]