Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p212 | (1) | ICCBH2019

Genetic loss of heparanase does not inhibit osteochondromas in Ext1 and Ext2 double heterozygous hereditary multiple osteochondroma mouse model

Nannuru Kalyan , Jimenez Johanna , Brydges Susannah , Murphy Andrew , Economides Aris , Hatsell Sarah

Hereditary multiple osteochondromas (HMO) is an autosomal dominant rare genetic disorder due to LOF heterozygous mutations in EXT1 or EXT2 genes. HMO is an unmet medical condition where patients often requiring multiple surgeries. HMO is characterized by painful cartilaginous capped bony outgrowths at the growth plate (GP) regions of long bones, ribs and other skeletal elements. The molecular mechanism by which these mutations lead to disease is unknown. Mutations in EXT1 and ...