Article
Contribution of Mendelian disorders in a population-based pediatric neurodegeneration cohort
2022-03-16
Abstract excerpt
<h4>Objectives</h4> To evaluate Mendelian causes of neurodegenerative disorders in a cohort of pediatric patients as pediatric neurodegenerative disorders are a rare, diverse group of diseases. As molecular testing has advanced, many children can be diagnosed, but the relative contribution of various disorders is unclear. <h4>Study Design</h4> Patients enrolled in the Center for Applied Genomics (CAG) Biobank at t...
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Identifiers and source
- Literature Corpus work
- bcc21058-a7a2-5b2a-ac1a-ab01f0394380
- DOI
- 10.1101/2022.03.15.22271876