L. Butnariu

Late-Diagnosed Cystic Fibrosis with Co-Occurring CFTR 3849+10kbC>T and 5T Variants: A Case Report

Background: The deep-intronic variant 3849+10kbC>T preserves residual CFTR function and is recurrently associated with pancreatic sufficiency, normal or borderline sweat chloride and diagnosis beyond early childhood. A co-occurring poly-T 5T allele adds a second layer of uncertainty: its penetrance depends on the TG re...