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.
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene / A. Ciammola, P. Carrera, A..B. Di Fonzo, J. Sassone, R. Villa, B. Poletti, M. Ferrari, F. Girotti, E. Monfrini, G. Buongarzone, V. Silani, C..M. Cinnante, M.L. Mignona, P. D'Adamo, M.T. Bonati. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1353-8020. - 44(2017 Nov), pp. 142-146. [10.1016/j.parkreldis.2017.08.021]
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene
A..B. Di Fonzo;R. Villa;B. Poletti;E. Monfrini;V. Silani;C..M. Cinnante;
2017
Abstract
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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