Associated Papers
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.
Gnoli M et al.
Orphanet Journal of Rare Diseases, 2024
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
No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.
Reijnders CM et al.
The American Journal of Pathology, 2010
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Lonie L et al.
Human Mutation, 2006
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