3 results
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... trafficking defect caused ... Other mutations ... Pathophys #Pulm #Peds ... #NEJM
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... and gut, which causes ... #clincial #peds ... calcifications #infant #NEJM
Erythemas Summarized
Erythema ab igne
 • A dermatosis that results from repeated exposure to heat (fires, heating
fires, heating pads ... Haverhill fever caused ... Rash is usually ... Usually composed ... #dermatology #compared