Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME; Boyden ED; Holm IA; Campos-Xavier B; Bonafé L; Superti-Furga A; Ikegawa S; Cormier-Daire V; Bovée JV; Pansuriya TC; de Sousa SB; Savarirayan R; Andreucci E; Vikkula M; Garavelli L; Pottinger C; Ogino T; Sakai A; Regazzoni BM; Wuyts W; Sangiorgi L; Pedrini E; Zhu M; Kozakewich HP; Kasser JR; Seidman JG; Kurek KC; Warman ML; Plos Genetics, 2011, vol. 7, issue 4, p e1002050, ISSN 15537404. ISBN 15537404.

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