Article
ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Nov 2022
Castellani C, De Boeck K, De Wachter E, Sermet-Gaudelus I, Simmonds N J, Southern K W
Abstract excerpt
This paper is the first in a series providing updated guidance on the definition, evaluation and management of people with a Cystic Fibrosis Transmembrane conductance Regulator (CFTR)-Related Disorder (CFTR-RD). The need for this update relates to more precise characterisation of CFTR gene variants and improved assessment of CFTR protein dysfunction. The exercise is co-ordinated by the European CF Society...
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