A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.

Kawakami I, Iseki E, Kasanuki K, Minegishi M, Sato K, Hino H, Shibuya K, Fujisawa K, Higashi S, Akiyama H, et al.

J Neurol Sci. 2016 Aug 15; 367:349-55. Epub 2016 Jun 07. PMID: 27423618. Abstract