Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in al...

Full description

Bibliographic Details
Main Authors: Puig-Hervás, M., Temtamy, S., Aglan, M., Valencia, M., Martínez-Glez, V., Ballesta-Martínez, M., López-González, V., Ashour, A., Amr, K., Pulido, V., Guillén-Navarro, E., Lapunzina, P., Caparrós-Martín, Jose, Ruiz-Perez, V.
Format: Journal Article
Published: John Wiley & Sons, Inc. 2012
Online Access:http://hdl.handle.net/20.500.11937/68119

Similar Items

Similar Items