2021•Unpublished venueOpen access

Author response for "Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX"

Julian Stürznickel, Katharina Jähn, Jozef Zustin, Floriane Hennig, Maximilian M. Delsmann, Katharina Schoner, Helga Rehder, Alfons Kreczy, Thorsten Schinke, Michael Amling, Uwe Kornak, Ralf Oheim

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Key concepts: Frameshift mutation, Compound heterozygosity, Osteogenesis imperfecta, Genetics, Mutation, Heterozygote advantage, Medicine, Biology

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Author response for "Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX" — Research Paper | ScholarLens