Article
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
American journal of human genetics - 9 Mar 2012
Zankl Andreas, Duncan Emma L, Leo Paul J, Clark Graeme R, Glazov Evgeny A, Addor Marie-Claude, Herlin Troels, Kim Chong Ae, Leheup Bruno P, McGill Jim, McTaggart Steven, Mittas Stephan, Mitchell Anna L, Mortier Geert R, Robertson Stephen P, Schroeder Marie, Terhal Paulien, Brown Matthew A
Abstract excerpt
Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of...
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