Autor: Britten-Jones, A. C., Dawkins, R. C. H., Bucknor, B., Ting, Y.-L., Ayton, L. N.

BackgroundType II, IX and XI collagenopathies encompass Stickler syndrome and a spectrum of related connective tissue disorders with diverse and overlapping phenotypes. This study evaluated outcomes of commercial gene panels to understand how genetic t…