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Autosomal dominant PDGFRb gain-of-function mutations in mice and humans cause a spectrum of wasting and overgrowth disorders afflicting the skeleton and other connective tissues, but the cellular origin of these disorders remains unknown. We demonstrate that skeletal stem cells (SSCs) isolated from mice with a gain-of-function D849V point mutation in PDGFRb exhibit SSC colony formation defects that parallel the wasting or overgrowth phenotypes of the mice. Singlecell RNA transcriptomics withdoi:10.1101/2021.01.21.427619 fatcat:uscisd3ufvb4pioiero64vx6ya