Article
A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.
Bone - 1 Aug 2020
De Ridder Raphaël, Boudin Eveline, Zillikens M Carola, Ibrahim Joe, van der Eerden Bram C J, Van Hul Wim, Mortier Geert
Abstract excerpt
Melorheostosis is a very rare sclerosing bone dysplasia characterized by asymmetrical and progressive cortical hyperostosis, usually with involvement of soft tissues surrounding the lesions. Recently Kang et al. identified somatic mosaicism for variants (p.Gln56Pro, p.Lys57Asn, or p.Lys57Glu) in the negative regulatory domain of MAP2K1, resulting in increased ERK1/2 signalling in affected tissues. In our study,...
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