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;VILLA, ROBERTA;B. Poletti;E. Monfrini;V. Silani;C..M. Cinnante;
2017-11

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.
intellectual disability; Parkinsonism; RAB39B; somatic mosaicism
Settore MED/26 - Neurologia
Settore MED/03 - Genetica Medica
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
Settore BIO/18 - Genetica
26-ago-2017
PARKINSONISM & RELATED DISORDERS
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/522398
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