Variable expressivity in a family with an aggrecanopathy.

Antoine DenisSami CherguiShuaa Basalom Philippe M CampeauChantal JanelleThierry Pauyo

Published 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.

Keyphrases

healthcare
case report
genome wide
gene expression
bioinformatics analysis
genome wide analysis