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Expansion of PURA-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 no...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7573717/ https://www.ncbi.nlm.nih.gov/pubmed/33117858 http://dx.doi.org/10.1177/2329048X20955003 |