Yang W, Wang J, Moore DC, Liang H, Dooner M, Wu Q, Terek R, Chen Q, Ehrlich MG, Quesenberry PJ, Neel BG

Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling.

Nature 499:491-5 (2013)
DOI:10.1038/nature12396

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafe L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovee 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

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PLoS Genet 7:e1002050 (2011)
DOI:10.1371/journal.pgen.1002050