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Article

Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.

Journal of clinical laboratory analysis - 1 Aug 2020

Jin Xiaohua, An Lisha, Hao Shengju, Liu Qian, Zhang Qinhua, Wang Xing, Feng Xuan, Zhang Chuan, Cao Xiaofang, Yan Yousheng, Ma Xu

Abstract excerpt

BACKGROUND: Mutations in the FBXO7 gene can cause a rare chromosomal recessive neurodegenerative disease, Parkinsonian-pyramidal syndrome (PPS). Patients with this syndrome mainly show early-onset Parkinson's syndrome. Here, we present a Chinese family with infantile-onset PPS caused by FBXO7 mutations. METHODS: The clinical phenotypes and medical records of the proband and his family members were collected. The...

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Identifiers

PMID: 32274857
DOI: 10.1002/jcla.23324
PMCID: PMC7439341

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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