英语词汇“exostoses, multiple, type 1”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	exostoses, multiple, type 1
释义	See diaphyseal aclasis See diaphyseal aclasis exostoses, multiple, type 1 exostoses, multiple, type 1 An autosomal dominant skeletal disorder (OMIM:133700) that primarily affects endochondral bone during growth, characterised by formation of numerous cartilage-capped, benign bone tumors (osteochondromas) and often accompanied by skeletal deformities and short stature. Rare cases undergo malignant transformation of osteochondromas to osteosarcoma or chondrosarcoma. Molecular pathology Caused by defects of EXT1, which encodes exostosin 1, a glycosyltransferase required for heparan sulfate synthesis.
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