2 results
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... no functional CFTR ... trafficking defect caused ... Pathophys #Pulm #Peds ... ModulatorTherapy #NEJM
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
calcification of both adrenal ... and gut, which causes ... #clincial #peds ... #adrenal #calcifications ... #infant #NEJM #