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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Bone Miner Res
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2018
विषय:
Article
ऑनलाइन पहुंच: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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