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    • Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, But Not Ollier Disease or Maffucci Syndrome 

      Campos-Xavier, Belinda; Superti-Furga, Andrea; Ikegawa, Shiro; Cormier-Daire, Valerie; Pansuriya, Twinkal C.; Savarirayan, Ravi; Andreucci, Elena; Vikkula, Miikka; Garavelli, Livia; Pottinger, Caroline; Ogino, Toshihiko; Sakai, Akinori; Regazzoni, Bianca M.; Wuyts, Wim; Sangiorgi, Luca; Pedrini, Elena; Bowen, Margot E.; Kurek, Kyle Christopher; Boyden, Eric David; Holm, Ingrid Adele; Bonafé, Luisa; Bovée, Judith V.; de Sousa, Sérgio b.; Zhu, Meijun; Kozakewich, Harry Peter Wolodymir; Kasser, James R.; Seidman, Jonathan G.; Warman, Matthew L. (Public Library of Science, 2011)
      Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis ...