Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas
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DOI: 10.3389/fgene.2024.1435493
Abstract: Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes,… read more here.
Keywords: ext1 gene; variants ext1; analysis; mosaic structural ... See more keywords