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PTHR1

MIM.168468 3p22-p21.1

The PTHR1 gene encodes a receptor for both parathyroid hormone (MIM.168450) and parathyroid hormone-related protein (MIM.168470).

Pathology

- germline mutations in

  • multiple enchondromatosis (Ollier disease)
  • Maffucci disease
  • Jansen metaphyseal chondrodysplasia (Murk Jansen type) (MIM.156400)
  • Blomstrand chondrodysplasia (MIM.215045)