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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2021

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

Abstract excerpt

Multiple genes are known to be associated with osteogenesis imperfecta (OI), a phenotypically and genetically heterogenous bone disorder, marked predominantly by low bone mineral density and increased risk of fractures. Recently, mutations affecting MESD, which encodes for a chaperone required for trafficking of the low-density lipoprotein receptors LRP5 and LRP6 in the endoplasmic reticulum, were described to...

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PMID: 33596325
DOI: 10.1002/jbmr.4277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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