Cystic Fibrosis: Modern Diagnostic and Therapeutic Advances from Molecular Pathogenesis to Multidisciplinary Management.

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is increasingly understood through a genomics-informed framework linking variant architecture to phenotype, diagnosis, and therapeutic eligibility. This review summarizes current evidence on CFTR structure, variant interpretation, genotype-phenotype...

Topics

• Humans
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Mutation
• Phenotype