A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy

QJM. 2024 Mar 27;117(3):233-235. doi: 10.1093/qjmed/hcad274.

Authors

L Zhu¹, W Zhang¹, C-F Hu², L-L Fan², Y-H Liu³

Affiliations

¹ Department of Obstetrics and Gynecology, Ordos Central Hospital, Ordos 017000, China.
² Department of Cell Biology, School of Life Sciences, Central South University, Changsha 410000, China.
³ Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou, China.

PMID: 38059599
DOI: 10.1093/qjmed/hcad274

No abstract available

MeSH terms

China
Humans
Leukoencephalopathies* / diagnostic imaging
Leukoencephalopathies* / genetics
Leukoencephalopathies* / pathology
Macrophage Colony-Stimulating Factor* / genetics
Mutation

Substances

Macrophage Colony-Stimulating Factor

Grants and funding