Associated Papers
Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.
Guo X et al.
Bone & Joint Research, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Structure of the human heparan sulfate polymerase complex EXT1-EXT2.
Leisico F et al.
Nature Communications, 2022
Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.
Yuan G et al.
Biomed Research International, 2021
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C et al.
Human Molecular Genetics, 2019
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
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.
Pei Y et al.
Genetic Testing and Molecular Biomarkers, 2010
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Alvarez CM et al.
Clinical Orthopaedics and Related Research, 2007
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis.
Hall CR et al.
American Journal of Medical Genetics, 2002
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan.
Shi YR et al.
Genetic Testing, 2002
The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.
Duncan G et al.
The Journal of Clinical Investigation, 2001
An R223P mutation in EXT2 gene causes hereditary multiple exostoses.
Shi YR et al.
Human Mutation, 2000