There has been sufficient amount of evidence published associating the EXT1 gene with Hereditary Multiple Exostoses (HME) since the gene-disease relationship was first proposed by Ahn et al. (1995). Plenty of case level studies have been performed with HME patients that have variants in the EXT1 gene. EXT2 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 EXT1. Multiple mouse models have been established to show the development of osteochondromas and exostoses with EXT1 deficiency. All of these evidence suggest a definitive relationship between the EXT1 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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