Genetic & Genomic MedicinemedRxivPreprint
The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy
Kohji Kato, Yosuke Nishio, Kirsty J. McMillan…·Peter J. Cullen
This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.