Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive mental retardation (ARMR). These genes have a variety of functions and participate in multiple biochemical pathways. ARMR is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic ARMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.
Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
