ESPE Abstracts

Background: Mutations in the ANKH gene affect the cellular transportation of the bone mineralization inhibitor, inorganic pyrophosphate (PPi). Loss-of-function mutations in this gene result in craniometaphyseal dysplasia (CMD), a rare disorder characterized by bone hyperostosis, particularly in the craniofacial bones, and metaphyseal widening of long bones. CMD patients experience impaired transport of PPi to extracellular compartment, leading to exce...