Mei-Fang Zhao, Song-Lin Zhang, YangZiYu Xiang, Qian Wang, Gao-Hui Cao, Ping-Ping Zhang, Liang-Liang Fan, Rong Yu, Ya-Li Li
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH), a type of overgrowth syndrome, is characterized by progressive megalencephaly, cortical brain malformations, and distal limb anomalies. Previous studies have revealed that the overactivity of the phosphatidylinositol 3-kinase-Protein kinase B pathway and the increased cyclin D2 (CCND2) expression were the main factors contributing to this disease. Here, we present the case of a patient who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay...
May 3, 2024: DNA and Cell Biology