Cho, Michael H; Klanderman, Barbara J; Litonjua, Augusto A; Sparrow, David; Silverman, Edwin K; Raby, Benjamin A
(BioMed Central, 2008-12-30)
BACKGROUND: Rare loss-of-function folliculin (FLCN) mutations are the genetic cause of Birt-Hogg-Dubé syndrome, a monogenic disorder characterized by spontaneous pneumothorax, fibrofolliculomas, and kidney tumors. ...