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Article

Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7

8 Sept 2020

Abstract excerpt

F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson's disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in the FBXO7 gene (c.1162C>T, p.Gln388X; c.80G>A, p.Arg27His). The clinical features of the patient were problematic...

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PMID: 32894901
DOI: 10.14802/jmd.20026

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