Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing
Evelyn Quintanilha Vianna, Rafael Mina Piergiorge, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Veluma Calassara, Carla Rosenberg, Ana Cristina Victorino Krepischi, Raquel Tavares Boy da Silva, Suely Rodrigues dos Santos, Márcia Gonçalves Ribeiro, Filipe Brum Machado, Enrique Medina‐Acosta, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças
Topics & Concepts
BiologyX-inactivationGeneticsX chromosomeSkewed X-inactivationExome sequencingPopulationGeneEpigeneticsPhenotypeMedicineEnvironmental healthGenetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesCRISPR and Genetic Engineering