The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

by Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait
Published 2019-06-01

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.

by Delfien Syx, Yoshihiro Ishikawa, Jan Gebauer, Sergei P Boudko, Brecht Guillemyn, Tim Van Damme, Sanne D'hondt, Sofie Symoens, Sheela Nampoothiri, Douglas B Gould, Ulrich Baumann, Hans Peter Bächinger, Fransiska Malfait
Published 2021-02-01