2 results
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... Gene Encoding Cystic ... trafficking defect caused ... Pathophys #Pulm #Peds ... #NEJM
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
calcification of both adrenal ... A homozygous mutation ... and gut, which causes ... #clincial #peds ... #infant #NEJM #