3 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
and gut, which causes ... #clincial #peds ... calcifications #infant #NEJM ... #Wolmans #radiology
Vertebral Hydatidosis- Physical examination revealed impaired sensation in both legs and weak foot flexion. Laboratory tests
dogs and other pets ... Infection can cause ... #clinical #radiology ... #MRI #NEJM #vertebral