Puig-Hervás M.T., Temtamy S., Aglan M., Valencia M., Martínez-Glez V., Ballesta-Martínez M.J., López-González V., Ashour A.M.,Amr K., Pulido V., Guillén-Navarro E., Lapunzina P., Caparrós-Martín J.A., Ruiz-Perez V.L. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-osteogenesis imperfecta phenotypic spectrum. Here, PLOD2 is linked to osteogenesis imperfecta.