Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature-Reference-Cited by-同舟云学术

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Published:2018-04-24 Issue:6 Volume:39 Page:790-805
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vuillaume Marie-Laure¹²^ORCID,Moizard Marie-Pierre¹²,Rossignol Sylvie³⁴,Cottereau Edouard¹,Vonwill Sandrine¹²,Alessandri Jean-Luc⁵,Busa Tiffany⁶,Colin Estelle⁷,Gérard Marion⁸,Giuliano Fabienne⁹,Lambert Laetitia¹⁰,Lefevre Mathilde¹¹,Kotecha Udhaya¹²,Nampoothiri Sheela¹³,Netchine Irène³,Raynaud Martine¹²,Brioude Frédéric³,Toutain Annick¹²

Affiliation:

1. Service de Génétique; CHU de Tours; Hôpital Bretonneau; Tours France

2. INSERM UMR_U930; Faculté de Médecine; Université de Tours, Tours; France

3. Unité d'explorations fonctionnelles endocriniennes; CHU Paris Est, Hôpital d'Enfants Armand-Trousseau; Paris France

4. Service de génétique médicale; CHU de Strasbourg; Hôpital de Hautepierre; Strasbourg France

5. Hôpital Félix Guyon Bellepierre; CHU de la Réunion; Saint-Denis France

6. Unité de Génétique Clinique; Département de génétique médicale; Hôpital de la Timone; CHU de Marseille; Marseille France

7. Département de biochimie et génétique; CHU d'Angers; Angers France

8. Service de génétique; CHU de Caen; Hôpital Clémenceau; Avenue Georges Clémenceau; Caen France

9. Service de génétique médicale; CHU de Nice; Hôpital l'Archet 2; Nice France

10. Service de Génétique Clinique; Hôpital d'Enfants; CHU de Nancy, Rue du Morvan; Vandoeuvre-Lès-Nancy France

11. Centre de génétique; Hôpital d'enfants; CHU Dijon Bourgogne; Dijon France

12. Center of Medical Genetics; Sir Ganga Ram Hospital, Rajinder Nagar; New Delhi India

13. Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Center; AIMS Poneakara P O; Cochin Kerala India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference68 articles.

1. Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome;Agatep;American Journal of Medical Genetics. Part A,2014

2. Heparan sulfate proteoglycans are critical for the organization of the extracellular distribution of Wingless;Baeg;Development (Cambridge, England),2001

3. Clinical and molecular overlap in overgrowth syndromes;Baujat;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics,2005

4. A new X-linked dysplasia gigantism syndrome: Identical with the Simpson dysplasia syndrome;Behmel;Human Genetics,1984

5. Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome;Cano-Gauci;The Journal of Cell Biology,1999

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