A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaBrecht Guillemyn(Ghent University Hospital), Sofie Symoens(Ghent University Hospital)Human Molecular GeneticsJanuary 15, 201910.1093/hmg/ddz017Cited by 38SaveCiteExport RISWatch citationsRelated PapersLoss of <scp>TANGO1</scp> Leads to Absence of Bone Mineralization|JBMR Plus|2020|38More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome|Human Mutation|2021|31More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome|Unknown|2020|3