Article
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
PLoS genetics - 1 Apr 2011
Bowen Margot E, Boyden Eric D, Holm Ingrid A, Campos-Xavier Belinda, Bonafé Luisa, Superti-Furga Andrea, Ikegawa Shiro, Cormier-Daire Valerie, Bovée Judith V, Pansuriya Twinkal C, de Sousa Sérgio B, Savarirayan Ravi, Andreucci Elena, Vikkula Miikka, Garavelli Livia, Pottinger Caroline, Ogino Toshihiko, Sakai Akinori, Regazzoni Bianca M, Wuyts Wim, Sangiorgi Luca, Pedrini Elena, Zhu Mei, Kozakewich Harry P, Kasser James R, Seidman Jon G, Kurek Kyle C, Warman Matthew L
Abstract excerpt
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 syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). To identify a gene for MC, we performed linkage analysis with high-density...
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