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

Kennedy LA

Metachondromatosis.

Radiology 148:117-8 (1983)
DOI:10.1148/radiology.148.1.6602353

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

PLoS Genet 6:e1000991 (2010)
DOI:10.1371/journal.pgen.1000991