Variable expressivity in a family with an aggrecanopathy.
Antoine DenisSami CherguiShuaa BasalomPhilippe M CampeauChantal JanelleThierry PauyoPublished in: Molecular genetics & genomic medicine (2021)
To the best of our knowledge, this is the first patient with an aggrecanopathy who presents with osteochondritis dissecans due to a frameshift variant. This family presents with variable expressivity which might be attributed to modifier genes.