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