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
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.
Gnoli M et al.
Orphanet Journal of Rare Diseases, 2024
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Al-Zayed Z et al.
Orphanet Journal of Rare Diseases, 2021
Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
Liang C et al.
Orthopaedic Surgery, 2020
EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.
Wang Y et al.
Frontiers in Genetics, 2020
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
Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family.
Camacho J et al.
Journal of Pediatric Genetics, 2018
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.
Li Y et al.
Bmc Medical Genetics, 2017
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
Cousminer DL et al.
Bone, 2016
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Ishimaru D et al.
Bmc Genetics, 2016
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
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Alvarez CM et al.
Clinical Orthopaedics and Related Research, 2007
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Lonie L et al.
Human Mutation, 2006
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
Dobson-Stone C et al.
European Journal of Human Genetics : Ejhg, 2000