Differences in Outcomes Between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

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(ed from J Pediatr 2017;181:137–145)

Cystic fibrosis (CF) affects 1 in 3000 newborns in white populations and is a recessive disorder caused by mutations in the CFTR (CF transmembrane conductance regulator) gene. Newborn screening (NBS) for this disorder is common in developed countries and in New South Wales where this study was conducted NBS has been available since July 1981.

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