Article
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2019
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
Abstract excerpt
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 MAP2K1-positive melorheostosis. Fifteen unrelated patients with radiographic appearance of melorheostosis underwent...
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