Associated Papers
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
Güneş N et al.
Turkish Archives of Pediatrics, 2023
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
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
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Sarrión P et al.
Scientific Reports, 2013
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