There is abundant evidence published associating the EXT2 gene with Hereditary Multiple Exostoses (HME) since the gene-disease relationship was first proposed by Stickens et al. (1996). Multiple case level studies have been performed with HME patients that have variants in the EXT2 gene. EXT1 also cause hereditary multiple exostoses and a working model for the formation of exostoses has been proposed to link the heparan sulfate biosynthesis function of EXT2. Multiple mouse and zebra fish models have been established to show the development of osteochondromas and exostoses with EXT2 deficiency. All of these types of evidence are consistent with a definitive relationship between the EXT2 gene and Hereditary Multiple Exostoses (HME).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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