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GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome

✍ Scribed by Satoru Sakazume; Nobuhiko Okamoto; Toshiyuki Yamamoto; Kenji Kurosawa; Hironao Numabe; Yuko Ohashi; Yuko Kako; Toshiro Nagai; Hirohumi Ohashi

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
134 KB
Volume
143A
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.

The Simpson-Golabi-Behmel gene,GPC3, is
The Simpson-Golabi-Behmel gene,GPC3, is not involved in sporadic Wilms tumorigenesis
✍ Gillan, Tanya L. ;Hughes, Rhiannon ;Godbout, Roseline ;Grundy, Paul E. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 1 views

## Abstract Many genes have been implicated in Wilms tumor; however, only one gene, __WT1__, has a proven role in the development of this embryonal tumor. Wilms tumor occurs in a number of congenital syndromes including the Simpson–Golabi–Behmel syndrome (SGBS) which has phenotypic overlap with ano