Article

Identification and Characterization of a Novel Member of the EXT Gene Family, EXTL2

1997-01-01

Abstract excerpt

Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described. Mutations in both genes are responsible for multiple exostosis syndrome (EXT), an autosomal dominant condition characterized by the presence of multiple osteochondromas, bony excrescences that sometimes undergo malignant transformation to chondrosarcoma. This family of EXT genes has been extended by the id...

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Literature Corpus work: e57c587f-6441-5c08-a078-31682223fec1
DOI: 10.1159/000484796

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