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
36443465 (PubMed )
Supplement: EMS155735-supplement-Supplemental_tables.xlsx › Table_S5_Variants_within_50bp_S
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
Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Guo X et al.
The Tohoku Journal of Experimental Medicine, 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
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.
Fischer S et al.
Human Molecular Genetics, 2006
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