Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders
A. Pagin, Isabelle Sermet‐Gaudelus, Pierre‐Régis Burgel
Topics & Concepts
Cystic fibrosisCystic fibrosis transmembrane conductance regulatorGenetic testingMedicineGenetic disorderSweat testNewborn screeningPancreatitisPediatricsPathologyDiseaseBioinformaticsInternal medicineBiologyCystic Fibrosis Research AdvancesNeonatal Respiratory Health ResearchTracheal and airway disorders