Somatic activating mutations in MAP2K1 cause melorheostosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Link
http://www.nature.com/articles/s41467-018-03720-z.pdf
Reference38 articles.
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2. Kotwal, A. & Clarke, B. L. Melorheostosis: a rare sclerosing bone dysplasia. Curr. Osteoporos. Rep. 15, 335–342 (2017).
3. Younge, D., Drummond, D., Herring, J. & Cruess, R. L. Melorheostosis in children. Clinical features and natural history. J. Bone Jt. Surg. Br. 61-B, 415–8 (1979).
4. Bostman, O. M., Holmstrom, T. & Riska, E. B. Osteosarcoma arising in a melorheostotic femur. A case report. J. Bone Jt. Surg. Am. 69, 1232–7 (1987).
5. Hellemans, J. et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat. Genet 36, 1213–8 (2004).
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