Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

doi:10.1016/j.ajhg.2010.01.011

Article

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

American journal of human genetics - 12 Feb 2010

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, Oehl-Jaschkowitz Barbara, Skinner Cindy, Schwartz Charles E, Gecz Jozef, Van Esch Hilde, Raynaud Martine, Chelly Jamel, de Brouwer Arjan P M, Toniolo Daniela, D'Adamo Patrizia

Abstract excerpt

Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of functi...

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

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