Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition
MR DeBaun, J Ess, S Saunders - Molecular genetics and metabolism, 2001 - Elsevier
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 distinct glycosylphophatidylinositol-
linked cell surface heparan sulfate proteoglycans. As a class of molecules, heparan sulfate …
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 distinct glycosylphophatidylinositol-
linked cell surface heparan sulfate proteoglycans. As a class of molecules, heparan sulfate …
