Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
Jianwei LiZhiqiang WangYaxin HanChengfang JinDalin ChengYong-An ZhouJunping ZhenPublished in: Molecular genetics & genomic medicine (2022)
Our study establishes the pathogenesis of the splicing mutation EXT1 c.1056 + 1G > T to HME and provides scientific foundation for accurate diagnosis and precise medical intervention for HME.