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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Authors: Giannandrea, Maila; Bianchi, Veronica; Mignogna, Maria Lidia; Sirri, Alessandra; Carrabino, Salvatore; D'Elia, Errico; Vecellio, Matteo; Russo, Silvia; Cogliati, Francesca; Larizza, Lidia; Ropers, Hans-Hilger; Tzschach, Andreas; Kalscheuer, Vera M.; Oehl-Jaschkowitz, Barbara; Schwartz, Charles E.; Gecz, Jozef; Van Esch, Hilde; Raynaud, Martine; Chelly, Jamel; de Brouwer, Arjan P.M.; Toniolo, Daniela; D'Adamo, Patrizia
Date of Publication (YYYY-MM-DD): 2010-02-12
Title of Journal: The American Journal of Human Genetics
Volume: 86
Issue / Number: 2
Start Page: 185
End Page: 195
Document Type: Article
ID: 532611.0