Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
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
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Ishimaru D et al.
Bmc Genetics, 2016
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Kojima H et al.
Genetic Testing, 2008
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Pedrini E et al.
Human Mutation, 2005
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.
Seki H et al.
American Journal of Medical Genetics, 2001
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