A novel nonsense variant in ARID1B causes simultaneous RNA decay and exon skipping associated with Coffin-Siris syndrome.

Historically, the diagnosis of CSS was entirely dependent on clinical features before molecular analyzes were performed. The main diagnostic criteria include the fifth/hypoplastic distal phalanx, psychomotor developmental delay, and coarse facial features.1. variables in ARID1B They are associated with different clinical phenotypes of intellectual disability, which are also recognized as ARID1BRelated disorders19. Morphological abnormalities in … Read more