Article
Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder.
Journal of medical genetics - 21 May 2024
Marquezini Bruna Pereira, Moysés-Oliveira Mariana, Kloster Anna, Cunha Lais, Deconto Tais Bassani, Mosini Amanda Cristina, Guerreiro Pedro, Paschalidis Mayara, Adami Luana Nayara Gallego, Andersen Monica Levy, Tufik Sergio
Abstract excerpt
Pogo transposable element-derived protein with ZNF domain (POGZ) gene encodes a chromatin regulator and rare variants on this gene have been associated with a broad spectrum of neurodevelopmental disorders, such as White-Sutton syndrome. Patient clinical manifestations frequently include developmental delay, autism spectrum disorder and obesity. Sleep disturbances are also commonly observed in these patients, yet...
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