Associated Papers
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
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Li Y et al.
Medicine, 2018
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.
Li Y et al.
Bmc Medical Genetics, 2017
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M et al.
Gene, 2013
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
Vink GR et al.
European Journal of Human Genetics : Ejhg, 2005
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