A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder that typically presents with early-onset cognitive decline or personality change. The disease is associated with heterozygous mutations in the colony stimulating factor-1 receptor (CSF1R) gene....

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Bibliographic Details
Main Authors: Xiaodong Yang, Pei Huang, Yuyan Tan, Qin Xiao
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Genetics
Subjects:
hereditary diffuse leukoencephalopathy with axonal spheroids
CSF1R
neuroimages
whole-exome sequencing
splicing mutation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00491/full

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