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

Author(s):
Bowen, M.E.; Boyden, E.D.; Holm, I.A.; Campos-Xavier, B.; Bonafe, L.; Superti-Furga, A.; Ikegawa, S.; Cormier-Daire, V.; Bovee, J.V.; Pansuriya, T.C.; Sousa, S.B. de; Savarirayan, R.; Andreucci, E.; Vikkula, M.; Garavelli, L.; Pottinger, C.; Ogino, T.; Sakai, A.; Regazzoni, B.M.; Wuyts, W.; Sangiorgi, L.; Pedrini, E.; Zhu, M.; Kozakewich, H.P.; Kasser, J.R.; Seidman, J.G.; Kurek, K.C.; Warman, M.L.
Published
2011
Publication type
Article / Letter to editor
Date issued
2011-04-30
Language
English
Is part of
PLoS Genetics (2011), Vol. 7, no. 4, p. -
hdl
1887/118053
doi
10.1371/journal.pgen.1002050