The Diagnostic Complexities of Cystic Fibrosis: When to Think of It and What to Do?

Abstract excerpt

Cystic fibrosis (CF) is one of the most common life-shortening hereditary disorders, caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This defect causes multi-system disease, but primarily it affects the lungs and pancreas. Over 2000 CFTR gene variants have been identified; these can result in variable CFTR protein function and, consequently, a diverse clinical...

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