Associated Papers
Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.
Jackson I et al.
European Journal of Human Genetics : Ejhg, 2023
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
Delgado MA et al.
Scientific Reports, 2014
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
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