Characterization of Leukodystrophy Penetrance Using Large-Scale Integration of Genomic Population Screening and Electronic Health Records

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background and Objectives</h4> Leukodystrophies are rare genetic diseases affecting the central nervous system white matter, leading to progressive disabilities and death. Although early diagnosis is critical for therapies, the penetrance and phenotypic spectrum of many leukodystrophies remain poorly defined. Here, we integrate sequencing population screening with longitudinal electronic he...

Topics

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• Autoimmune Diseases of the Nervous System
• Demyelinating Diseases
• Lysosomal Storage Diseases
• Myelin Sheath
• Nervous System Malformations
• Pelizaeus-Merzbacher Disease
• RNA Polymerase III
• White Matter

Identifiers and source

Literature Corpus work

21080eba-bf8f-5bee-b6fd-e58cf35d260f

DOI

10.64898/2026.07.04.26356970