A patient with the Simpson–Golabi–Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface

GPC3 mutation analysis in a spectrum of

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

✍ Li, Madeline ;Shuman, Cheryl ;Fei, Yan Ling ;Cutiongco, Eva ;Bender, H.A. ;Steve 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 283 KB 👁 2 views

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes.