<i>CSF1R</i> -Related Disorder

Abstract

Background and Objectives: mutations in the UK population and identify clinical phenotypes associated with these variants. Methods: variants were identified in UK Biobank whole-exome sequencing data (N = 470,000). Medical history, including neurologic and psychiatric disease, were determined from self-reported and hospital collected codes, and the volume of MRI white matter hyperintensities were compared between variant carriers and controls. Results: = 0.032). Discussion: RD is either underreported, not diagnosed because of lack of genetic screening or that there is reduced penetrance.

Topics & Concepts