title: Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.
authors.affiliation: Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University, Guangzhou, P.R. China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Pei
authors.forename: Yiming
authors.initials: Y
authors.lastname: Wang
authors.forename: Weijun
authors.initials: W
authors.lastname: Huang
authors.forename: Bin
authors.initials: B
authors.lastname: Hu
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Huang
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Peiqiang
authors.initials: P
authors.lastname: Su
mesh_terms: D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D011859:Radiography; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2