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Science Translational Medicine|July 2, 2025
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathyKohji Kato, Yosuke Nishio, Kirsty J McMillan, et al.Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Pageof 3