Severe upper airway dysfunction in GNAO1-related disorders
Abstract Background GNAO1-related disorders (GNAO1-RD) encompass a wide phenotypic spectrum, including muscular hypotonia, movement disorders (MD), epilepsy, developmental delay, and intellectual disability. MD often presents with dystonia and choreoathetosis, and dyskinetic crises can lead to life-...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2025-10-01
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| Edice: | Italian Journal of Pediatrics |
| Témata: | |
| On-line přístup: | https://doi.org/10.1186/s13052-025-02150-0 |
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