Article
Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening.
Pediatric pulmonology - 1 Apr 2020
Munck Anne, Bourmaud Aurélie, Bellon Gabriel, Picq Paul, Farrell Philip M
Abstract excerpt
OBJECTIVE: To characterize the phenotypic expression of children with conductance regulator-related metabolic syndrome (CRMS)/cystic fibrosis screen positive inconclusive diagnosis (CFSPID) designation after positive newborn screening, reassign labeling if applicable and better define these children's prognosis. METHODS: A multicenter cohort with CRMS/CFSPID designation was matched with cystic fibrosis...
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