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Stürznickel, Julian1; Jähn-Rickert, Katharina1; Zustin, Jozef1; Hennig, Floriane2,3; Delsmann, Maximilian M.; Schoner, Katharina4; Rehder, Helga5; Kreczy, Alfons6; Schinke, Thorsten1; Amling, Michael1; Kornak, Uwe2,3,7; Oheim, Ralf1,8
Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX
J Bone Miner Res. June 2021;​36(6):​1077-1087