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Natural History, Pathogenesis and Outcome of Melorheostosis

Somatic activating mutations in MAP2K1 cause melorheostosis

Heeseog Kang, S. Jha, Z. Deng, et al. (2018). Nature Communications. Cited 75 times. https://doi.org/10.1038/s41467-018-03720-z

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway

Heeseog Kang, S. Jha, A. Ivovic, et al. (2020). The Journal of Experimental Medicine. Cited 35 times. https://doi.org/10.1084/jem.20191499