Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations

Melorheostosis is a rare hyperostotic disease of the long bones classically characterized by a “dripping candle-wax” radiographic appearance. We recently described somatic activating mutations in MAP2K1 as a cause of melorheostosis. Here, we report distinguishing characteristics of patients with MAP...

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Détails bibliographiques
Publié dans:J Bone Miner Res
Auteurs principaux: Jha, Smita, Fratzl-Zelman, Nadja, Roschger, Paul, Papadakis, Georgios Z, Cowen, Edward W, Kang, Heeseog, Lehky, Tanya J, Alter, Katharine, Deng, Zuoming, Ivovic, Aleksandra, Flynn, Lauren, Reynolds, James C, Dasgupta, Abhijit, Miettinen, Markku, Lange, Eileen, Katz, James, Klaushofer, Klaus, Marini, Joan C, Siegel, Richard M, Bhattacharyya, Timothy
Format: Artigo
Langue:Inglês
Publié: 2018
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7577747/
https://ncbi.nlm.nih.gov/pubmed/30138550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3577
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