Article

Whole Exome Sequencing for the Diagnosis of Rare Genetic Neurodevelopmental Disorders Associated with Cerebellar Atrophy

2023-01-19

Abstract excerpt

Neurodegenerative disorders (NDs) are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation and cognition. It may also be associated with neuroinflammation and oxidative stress. Several genes have been identified underlying the different forms. Herein, we describe seven patients fr...

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Literature Corpus work: 6836dc2e-b30e-5d7d-b39a-dd1e0e566e59
DOI: 10.21203/rs.3.rs-2481124/v1

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