Associated Papers
A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate.
Xian C et al.
Genetics and Molecular Biology, 2021
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A et al.
Annals of Human Genetics, 2019
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.
Guo XL et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
Wu Y et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2013
A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.
Yang L et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2010
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W et al.
Human Mutation, 2000
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