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Genetic Testing of Leukodystrophies Unraveling Extensive Heterogeneity in a Large Cohort: The Role of Five Common Diseases and Report of 38 Novel Variants

2020-10-19

Abstract excerpt

<h4>Background: </h4> This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. <h4>Methods: </h4>: 152 children, aged from 1day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological findings from 2016 to 2019. Patients with a suggestive specific leukodystrophy, e. g. metachromatic leukodystrophy, Canavan d...

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Literature Corpus work
9b0db592-5eb4-57c2-831a-a7e350bb2758
DOI
10.21203/rs.3.rs-93329/v1
Open publication

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Genetic Testing of Leukodystrophies Unraveling Extensive&nbsp;Heterogeneity in a Large Cohort: The Role of Five Common Diseases and Report of 38 Novel VariantsDOI 10.21203/rs.3.rs-93329/v1
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