Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
โ Scribed by Pilia, Giuseppe; Hughes-Benzie, Rhiannon M.; MacKenzie, Alex; Baybayan, Primo; Chen, Ellson Y.; Huber, Reid; Neri, Giovanni; Cao, Antonio; Forabosco, Antonino; Schlessinger, David
- Book ID
- 109915434
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 803 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1061-4036
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๐ SIMILAR VOLUMES
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.
## 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 SimpsonโGolabiโBehmel syndrome (SGBS) which has phenotypic overlap with ano