Article
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 May 2013
Cottereau Edouard, Mortemousque Isabelle, Moizard Marie-Pierre, Bürglen Lydie, Lacombe Didier, Gilbert-Dussardier Brigitte, Sigaudy Sabine, Boute Odile, David Albert, Faivre Laurence, Amiel Jeanne, Robertson Robert, Viana Ramos Fabiana, Bieth Eric, Odent Sylvie, Demeer Bénédicte, Mathieu Michéle, Gaillard Dominique, Van Maldergem Lionel, Baujat Geneviéve, Maystadt Isabelle, Héron Delphine, Verloes Alain, Philip Nicole, Cormier-Daire Valérie, Frouté Marie-Françoise, Pinson Lucile, Blanchet Patricia, Sarda Pierre, Willems Marjolaine, Jacquinet Adeline, Ratbi Ilham, Van Den Ende Jenneke, Lackmy-Port Lis Marylin, Goldenberg Alice, Bonneau Dominique, Rossignol Sylvie, Toutain Annick
Abstract excerpt
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and...
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