Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family
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DOI: 10.1002/mgg3.1878
Abstract: Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss‐of‐function mutations in… read more here.
Keywords: exostosis hme; hereditary multiple; functional analyses; multiple exostosis ... See more keywords