Article
Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.
Molecular genetics and metabolism - 1 Apr 2001
DeBaun M R, Ess J, Saunders S
Abstract excerpt
Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene at Xq26, one member of a multigene family encoding for at least six...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
