Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report
Variants in PURA have recently been associated with an autosomal dominant form of PURA -related neurodevelopmental disorders. Using whole exome sequencing, patients with neurological phenotypes including hypotonia, developmental delay, learning disabilities, and seizures were identified to have de n...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2020-10-01
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| Series: | Child Neurology Open |
| Online Access: | https://doi.org/10.1177/2329048X20955003 |