Expansion of the phenotypic and genotypic spectrum for PRKAR1B-related Marbach-Schaaf neurodevelopmental syndrome: a case series - Burkart, Sebastian; Guzeloglu, Tarik; Soares, Ana R.; Valenzuela, Irene; Tizzano, Eduardo F.; Gómez-Andres, David; Pasquier, Laurent; Legendre, Marine; Berges, Camille; Thevenon, Julien; Gauthier, Marjolaine; Heid, Caleb; et al. (Clinical genetics, 2025)
Zuerst veröffentlicht: 29. Oktober 2025