Article
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Parkinsonism & related disorders - 1 Nov 2017
Ciammola Andrea, Carrera Paola, Di Fonzo Alessio, Sassone Jenny, Villa Roberta, Poletti Barbara, Ferrari Maurizio, Girotti Floriano, Monfrini Edoardo, Buongarzone Gabriele, Silani Vincenzo, Cinnante Claudia Maria, Mignogna Maria Lidia, D'Adamo Patrizia, Bonati Maria Teresa
Abstract excerpt
BACKGROUND: RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In this study we searched for pathogenic variants in RAB39B in two Italian families affected by X-linked early-onset Parkinsonism and Intellectual Disability....
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