Articles with "ext2 mutation" as a keyword



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Familial solitary chondrosarcoma resulting from germline EXT2 mutation

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Published in 2017 at "Genes"

DOI: 10.1002/gcc.22419

Abstract: Germline mutations of EXT2, encoding Exostosin Glycosyltransferase 2, are associated with multiple osteochondromas (MO), an autosomal dominant disease characterized by the development of multiple peripheral cartilaginous benign tumors with a weak risk of malignant transformation.… read more here.

Keywords: chondrosarcoma; germline ext2; ext2 mutation; development ... See more keywords