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PTHR1 mutations associated with Ollier disease result in receptor loss of function.
- A. Couvineau, V. Wouters, +6 authors C. Silve
- Medicine, Biology
- Human molecular genetics
- 15 September 2008
PTHR1-signaling pathway is critical for the regulation of endochondral ossification. Thus, abnormalities in genes belonging to this pathway could potentially participate in the pathogenesis of Ollier… Expand