Abstract:The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HMe) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT-2) gene. a patient with multiple exostoses with huge cartilage-capped tumors in scapula, knees and ankles received surgery in department of orthopedics (Shanghai changhai Hospital). a total of 20 family members were recruited to the study, with seven members (five male; two female) diagnosed a… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.