Article
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Human mutation - 1 Jan 2010
Lim Derek H K, Rehal Pauline K, Nahorski Michael S, Macdonald Fiona, Claessens Tijs, Van Geel Michel, Gijezen Lieke, Gille Johan J P, Giraud Sophie, Richard Stephane, van Steensel Maurice, Menko Fred H, Maher Eamonn R
Abstract excerpt
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Folliculin (FLCN) were first identified in BHD patients in 2002. In addition FLCN mutations have also been described in families with isolated primary spontaneous...
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