Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
Aldesia ProvenzanoAndrea La BarberaFrancesco LaiAndrea PerraAntonio FarinaEttore CariatiOrsetta ZuffardiSabrina Rita GiglioPublished in: Journal of clinical medicine (2022)
This study confirms the advantage of WES on cff-DNA and emphasizes the role of the type of the variant in X-linked disorders.