Associated Papers
Jordan syndrome due to PPP2R5D gene mutation: a report of two pediatric cases and literature review.
Huang Y et al.
Translational Pediatrics, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.
Alhajaj G et al.
American Journal of Medical Genetics. Part A, 2023
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