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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-...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Katerina Bernardi, Juan Darío Ortigoza-Escobar, Jana Dominguez-Carral, Iván Espinoza-Quinteros, Lorena Diaz Mendo, Anne Koy, Moritz Thiel
Hōputu: Artigo
Reo:Inglês
I whakaputaina: BMC 2025-10-01
Rangatū:Italian Journal of Pediatrics
Ngā marau:
Urunga tuihono:https://doi.org/10.1186/s13052-025-02150-0
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