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Article

Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.

European journal of medical genetics - 1 Jan 2021

Hetzelt Katalin L M L, Kerling Frank, Kraus Cornelia, Rauch Christophe, Thiel Christian T, Winterholler Martin, Reis André, Zweier Christiane

Abstract excerpt

PPP2R5D-related neurodevelopmental disorder (NDD) is a rare autosomal-dominant disease with developmental delay and mild to severe intellectual disability. So far, fewer than 30 affected individuals with mostly recurrent, de novo missense variants in PPP2R5D were reported. Recently, parkinsonism with an onset between 20 and 40 years was reported in four adult individuals with the same p.(Glu200Lys) variant in...

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Identifiers

PMID: 33338668
DOI: 10.1016/j.ejmg.2020.104123

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