Scientists have uncovered a new, fundamental mechanism behind the severe skeletal abnormalities seen in Jansen metaphyseal chondrodysplasia (JMC), a rare genetic disorder characterized by short-limbed dwarfism. A new study reveals that the causative H223R-PTH1R gene mutation directly impairs mature bone cells, known as osteocytes, leading to bone structural irregularities and poor quality, a finding that […]
