Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX

ISSN
0884-0431
Date Issued
2021
Author(s)
Stürznickel, Julian
Jähn‐Rickert, Katharina
Zustin, Jozef
Hennig, Floriane
Delsmann, Maximilian M.
Schoner, Katharina
Rehder, Helga
Kreczy, Alfons
Schinke, Thorsten
Amling, Michael
Oheim, Ralf
DOI
10.1002/jbmr.4277