Metachondromatosis
Definition:
References:
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[1]. L A Kennedy, et al. Metachondromatosis. Radiology. 1983 Jul;148(1):117-8. [Content Brief]
[2]. Margot E Bowen, et al. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr;7(4):e1002050. [Content Brief]
[3]. Nara L M Sobreira, et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet. 2010 Jun 17;6(6):e1000991. [Content Brief]
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