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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Библиографические подробности
Опубликовано в: :J Bone Miner Res
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
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Article
Online-ссылка: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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