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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

โœ 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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GPC3 mutation analysis in a spectrum of
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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.

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## 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 Simpsonโ€“Golabiโ€“Behmel syndrome (SGBS) which has phenotypic overlap with ano