Article
ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Nov 2022
Sermet-Gaudelus I, Girodon E, Vermeulen F, Solomon G M, Melotti P, Graeber S Y, Bronsveld I, Rowe S M, Wilschanski M, Tümmler B, Cutting G R, Gonska T
Abstract excerpt
The spectrum of disorders involving CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction correlates with a continuous gradient of CFTR function defined by the combination of two allelic CFTR variants. CFTR-related disorders are clinical entities with features of cystic fibrosis (CF) and evidence for presence of CFTR dysfunction but not meeting criteria for diagnosis of CF. Individuals with...
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