Haploinsufficiency of <i>CSF-1R</i> and clinicopathologic characterization in patients with HDLS

Abstract

These findings suggest that patients with HDLS, irrespective of mutation type in CSF-1R, show characteristic clinical and neuroimaging features, and that perturbation of CSF-1R signaling by haploinsufficiency may play a role in microglial dysfunction leading to the pathogenesis of HDLS.