Identification of Novel Germline Mutations in FUT7 and EXT1 Linked with Hereditary Multiple Exostoses

Medicine, Orthopedics, Oncology, Life Sciences, Genetics,
Hereditary Multiple Exostoses   FUT7   EXT1   germline mutations   chondrodysplasia   IL6/STAT3/Slug axis   ubiquitination degradation  

Novel Germline Mutations in FUT7 and EXT1 Linked to Hereditary Multiple Exostoses Background Hereditary Multiple Exostoses (HME), also known as Hereditary Multiple Osteochondromas (HMO), is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-capped bone projections (osteochondromas). These osteochondromas ...