Associated Papers
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
Rydzanicz M et al.
American Journal of Medical Genetics. Part A, 2022
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis.
Yang W et al.
Rare Diseases (austin, Tex.), 2013
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME et al.
Plos Genetics, 2011
Select a paper to view details