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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/...
11mo
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy
www.science.org
The multiorgan phenotypes found in Ritscher-Schinzel syndrome stem from defective endosomal protein recycling, leading to a proposed recyclinopathy.
Brett Collins
