Multicentric carpotarsal osteolysis in a rheumatologist’s practice
Author:
Publisher
LLC Obyedinennaya Redaktsiya
Subject
General Medicine,Endocrinology, Diabetes and Metabolism,History,Family Practice
Reference18 articles.
1. Kaissi Al., Scholl-Buergi S., Biedermann R. et al. The diagnosis and management of patients with idiopathic osteolysis. Pediatr Rheumatol Online J 2011; 9: 31.
2. Warman ML., Cormier-Daire V., Hall C. et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 2011; 155: 943—968.
3. Zankl A., Duncan E.L., Leo P.J. et al. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet 2012; 90 (3): 494—501.
4. Dworschak G.C., Draaken M., Hilger A. et al. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsalosteolysis syndrome. Int J Mol Med 2013; 32 (1): 174—178.
5. Mehawej C., Courcet J.B., Baujat G. et al. The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. Am J Med Genet A 2013; 161 (12): 3023—3029.
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