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Article

Pathogenicity analysis and a novel case report of intronic mutations in CSF1R gene.

Neurocase - 1 Apr 2022

Shixing Xue, Wei Wang, Xueyan Hou, Wei Tang

Abstract excerpt

Colony-stimulating factor 1 receptor-associated leukoencephalopathy (CSF1R-related leukoencephalopathy) is a genetic disorder mutated in a single allele. It is characterized by an adult-onset along with predominantly cognitive impairment, accompanied by neuropsychiatric symptoms as well as motor symptoms such as Parkinsonism. In the current study, we confirmed a case of CSF1R-related leukoencephalopathy pedigree...

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PMID: 35503975
DOI: 10.1080/13554794.2022.2071625

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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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