Bone Abstracts

Introduction: Hypophosphatasia is a rare genetic disease caused by a mutation in the tissue-nonspecific alkaline phosphatase gene. TNSALP gene is located on the short arm of chromosome 1 (1p36.1-34). Over 200 point mutations have been described for this gene so far. Hypophosphatasia is inherited in an autosomal recessive or dominant way, which is related to the severity of symptoms. Pathophysiology of this disease is associated with the impaired function of osteoblasts that do...