Article

An activating mutation in <i>Pdgfrb</i> causes skeletal stem cell defects with osteopenia and overgrowth in mice

2021-01-21

Abstract excerpt

Autosomal dominant PDGFR β 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 PDGFR β exhibit SSC colony formation defects that parallel th...

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Literature Corpus work: 6f34faf5-9745-5242-b43d-6bd2c34da6ba
DOI: 10.1101/2021.01.21.427619

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