@article{cottereau:hal-01064382,
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 = {Cottereau, Edouard and Mortemousque, Isabelle and Moizard, Marie-Pierre and B{\"u}rglen, Lydie and Lacombe, Didier and Gilbert-Dussardier, Brigitte and Sigaudy, Sabine and Boute, Odile and David, Albert and Faivre, Laurence and Amiel, Jeanne and Robertson, Robert and Viana Ramos, Fabiana and Bieth, Eric and Odent, Sylvie and Demeer, B{\'e}n{\'e}dicte and Mathieu, Mich{\'e}le and Gaillard, Dominique and van Maldergem, Lionel and Baujat, Genevi{\'e}ve and Maystadt, Isabelle and H{\'e}ron, Delphine and Verloes, Alain and Philip, Nicole and Cormier-Daire, Val{\'e}rie and Frout{\'e},
Marie-Fran{\c c}oise and Pinson, Lucile and Blanchet, Patricia and Sarda, Pierre and Willems, Marjolaine and Jacquinet, Adeline and Ratbi, Ilham and van den Ende, Jenneke and Lackmy-Port Lis, Marylin and Goldenberg, Alice and Bonneau, Dominique and Rossignol, Sylvie and Toutain, Annick},
URL = {https://hal.science/hal-01064382},
JOURNAL = {American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
PUBLISHER = {Wiley},
VOLUME = {163C},
NUMBER = {2},
PAGES = {92--105},
YEAR = {2013},
DOI = {10.1002/ajmg.c.31360},
KEYWORDS = {Arrhythmias ; Cardiac ; Genetic Diseases ; X-Linked ; Gigantism ; Glypicans ; Heart Defects ; Congenital ; Humans ; Intellectual Disability ; Mutation ; Phenotype},
HAL_ID = {hal-01064382},
HAL_VERSION = {v1},
}