Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

by Cíntia B. Santos-Rebouças, Raquel Boy, Evelyn Q. Vianna, Andressa P. Gonçalves, Rafael M. Piergiorge, Bianca B. Abdala, Jussara M. dos Santos, Veluma Calassara, Filipe B. Machado, Enrique Medina-Acosta, Márcia M. G. Pimentel
Published 2020-03-01