Identification of a novel epigenetic marker for typical and mosaic presentations of fragile X syndrome.
Camilla Pereira da SilvaDiego CamuziAdriana Helena DE Oliveira ReisAndressa Pereira GonçalvesJussara Mendonça Dos SantosFilipe Brum MachadoEnrique Medina-AcostaSheila Coelho Soares LimaCintia Barros Santos-RebouçasPublished in: Expert review of molecular diagnostics (2023)
Since intragenic methylation is pivotal in gene regulation, the intronic CpG might be a novel epigenetic biomarker for FXS diagnosis.