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.

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.
随便看	friborg fribourg fribourg, ernest edouard fribourg, ernest édouard fribourg fr fribourg / freiburg fribourg (fribourg) fribourg gottéron hockey club fribourg jazz orchestra fribourg product image database fribourg statistiques et applications des mathématiques fribourg, switzerland fric fricace fricandeau fricandeaux fric and frac fricando fricassee fricasseed fricasseeing fricassees fricassée frication fricative