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cftr clincial infant modulatortherapy mutations pathophys pharm pulm radiology wolmans xray
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
of both adrenal ... and gut, which causes ... #clincial #peds ... #adrenal #calcifications ... #infant #NEJM #
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Gene Encoding Cystic ... trafficking defect caused ... Pathophys #Pulm #Peds ... #CysticFibrosis ... ModulatorTherapy #NEJM
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