PTH1R and autosomal recessive disease: These diseases are both caused by mutations in the PTH/PTHrP receptor, PTH1R, but JMC is an autosomal dominant disorder that results from constitutive activation of the PTH1R receptor (Schipani et al., 1995), whereas BOCD is an autosomal recessive disease that leads to loss-of-function of PTH1R (Jobert et al., 1998).