: Patologías humanas: Jansen metaphyseal chondrodysplasia

disease > genetic disease > hereditary disease > metaphyseal chondrodysplasia > Jansen metaphyseal chondrodysplasia

disease > diseases of the osteoarticular system > osteochondrodysplasia > metaphyseal chondrodysplasia > Jansen metaphyseal chondrodysplasia

Jansen metaphyseal chondrodysplasia

Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 (PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). (Wikipedia)

http://data.loterre.fr/ark:/67375/VH8-V6BTTPBK-T

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