Article
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Human mutation - 1 Jun 2018
Vuillaume Marie-Laure, Moizard Marie-Pierre, Rossignol Sylvie, Cottereau Edouard, Vonwill Sandrine, Alessandri Jean-Luc, Busa Tiffany, Colin Estelle, Gérard Marion, Giuliano Fabienne, Lambert Laetitia, Lefevre Mathilde, Kotecha Udhaya, Nampoothiri Sheela, Netchine Irène, Raynaud Martine, Brioude Frédéric, Toutain Annick
Abstract excerpt
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican-3 gene (GPC3). Until now, GPC3 mutations have been reported in isolated cases or small series and the global genotypic spectrum of these mutations has never been delineated. In this study, we review the 57 previously described GPC3 mutations and significantly expand this...
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