Congratulations to Kohl Kato and Pete Cullen and all involved in this tour de force characterising mutations in the Commander complex leading to Ritscher-Schinzel or 3C syndrome. @peterjcullen1.bsky.social
www.science.org/doi/10.1126/...
The multiorgan phenotypes found in Ritscher-Schinzel syndrome stem from defective endosomal protein recycling, leading to a proposed recyclinopathy.
