Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Stephanie EfthymiouIsabella HermanFatima RahmanNajwa AnwarReza MaroofianJanice YipTadahiro MitaniDaniel G CalameJill V HunterV Reid SuttonElif Yilmaz GulecRuizhi DuanJawid M FatihDana MarafiDavut PehlivanShalini N JhangianiRichard A GibbsJennifer E Poseynull nullShazia MaqboolJames R. LupskiHenry HouldenPublished in: American journal of medical genetics. Part A (2021)