Article
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
Neurogenetics - 1 Feb 2013
Quattrocchi Carlo C, Zanni Ginevra, Napolitano Antonio, Longo Daniela, Cordelli Duccio Maria, Barresi Sabina, Randisi Francesco, Valente Enza Maria, Verdolotti Tommaso, Genovese Elisabetta, Specchio Nicola, Vitiello Giuseppina, Spiegel Ronen, Bertini Enrico, Bernardi Bruno
Abstract excerpt
GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migration caused by mutations of GPR56. To better delineate the clinical, molecular, and neuroradiological phenotypes associated with BFPP, we performed conventional magnetic resonance imaging and diffusion tensor imaging studies in a series of prospectively enrolled patients carrying novel GPR56...
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