Open access
Oct 2026
Residual-Function and Splicing CFTR Variants Characterize False-Negative IRT Newborn Screening: A Ten-Year Single-Center Cohort From Türkiye.
Because the Turkish protocol forgoes second-tier testing in IRT-1-negative infants, this subgroup is invisible to the current algorithm; the fixed cutoff warrants optimization.
Ç. Korkmaz, Osman Talha Akpınar, Aysel Kılıç et al.
· Pediatric Pulmonology · 0 citations