[P1-188] Hereditary Multiple Exocytosis
The defect of O-Xyloglucan glycosylation is a common dominant transitive autosomal, mutations in genes EXT1/EXT2 which comprimises hereditary multiple exocytosis. The mutations of EXT1 / EXT2 causes insufficient synthesis of heparan sulfate to facilitate the increase of chondrocyte, this results in development of surronding bones areas which causes further development of multiple exocytosis which leads to the development of potential malignant transformation. The diagnostic criteria, for at least two osteochondroma in the epiphyseal regions of long bones in juks, in most cases a positive family history and mutations in the gene EXT.
In this article, hereditary multiple exocytosis that meet clinical and diagnostic criteria have been examined in the context of seven family of genetic mutations and clinical variability.
In this article, hereditary multiple exocytosis that meet clinical and diagnostic criteria have been examined in the context of seven family of genetic mutations and clinical variability.