Thirteen New Patients of <i>PPP2R5D</i> Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype

• Main Authors: Yinmo Jiang (Author), Bingbing Wu (Author), Xi Zhang (Author), Lin Yang (Author), Sujuan Wang (Author), Huiping Li (Author), Shuizhen Zhou (Author), Yanyan Qian (Author), Huijun Wang (Author)
• Format: Book
• Published: MDPI AG, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Neurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The <i>PPP2R5D</i> gene encodes B56δ, the regulatory subunit of protein phosphatase 2A (PP2A). NDDs related to the <i>PPP2R5D</i> gene have...