Article

ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel Variants

2021-05-18

Abstract excerpt

<h4>Background: </h4> Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroimaging findings, however, genetic tools, particularly whole-exome sequencing (WES) have led to comprehending the causative gene and molecular events contributing to these disorders. Mutati...

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Literature Corpus work: 89cc5430-64ff-5326-b460-1843971579be
DOI: 10.21203/rs.3.rs-502656/v1

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