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Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

✍ Scribed by Isabelle Pénisson-Besnier; Thibaud Lebouvier; Marie-Pierre Moizard; Marc Ferré; Magalie Barth; Guillaume Marc; Martine Raynaud; Dominique Bonneau

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
221 KB
Volume
146A
Category
Article
ISSN
1552-4825

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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.