Bone Abstracts

Background: Hypophosphatasia (HPP) is a rare skeletal disease characterized by defective bone and teeth mineralization and the deficiency of tissue non-specific alkaline phosphatase activity. This disorder is caused by mutations in the ALPL gene, which encodes TNAP. The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization (perinatal form) to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pa...