Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

  title={Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.},
  author={Edouard Cottereau and Isabelle Mortemousque and Marie-Pierre Moizard and Lydie B{\"u}rglen and Didier Lacombe and Brigitte Gilbert-Dussardier and Sabine Sigaudy and Odile Boute and Albert David and Laurence Faivre and Jeanne Amiel and Robert R Robertson and Fabiana Viana Ramos and {\'E}ric Bieth and Sylvie Odent and B{\'e}n{\'e}dicte Demeer and Mich{\'e}le Mathieu and Dominique Gaillard and Lionel Van Maldergem and Genevi{\`e}ve Baujat and Isabelle Maystadt and D{\'e}lphine Heron and Alain Verloes and Nicole Philip and Val{\'e}rie Cormier-Daire and Marie-Françoise Frout{\'e} and Lucile Pinson and Patricia Blanchet and Pierre Sarda and Marjolaine Willems and Adeline Jacquinet and Ilham Ratbi and Jenneke Van den Ende and Marylin Lackmy-Port Lis and Alice Goldenberg and D. Bonneau and Sylvie Rossignol and Annick Toutain},
  journal={American journal of medical genetics. Part C, Seminars in medical genetics},
  volume={163C 2},
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 mild/moderate intellectual deficiency. In 1996, Glypican 3 (GPC3) was identified as the major gene causing SGBS but the mutation detection rate was only 28-70%, suggesting either genetic heterogeneity… CONTINUE READING
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