Article
Clinical, molecular, and pharmacological aspects of FMR1 related disorders.
Neurologia (Barcelona, Spain) - 1 May 2017
Pugin A, Faundes V, Santa María L, Curotto B, Aliaga S, Salas I, Soto P, Bravo P, Peña M I, Alliende M A
Abstract excerpt
BACKGROUND: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation...
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