Article
Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome.
American journal of respiratory and critical care medicine - 15 Nov 2021
Madani Amélia, Pitollat Gabriel, Sizun Eléonore, Cardoit Laura, Ringot Maud, Bourgeois Thomas, Ramanantsoa Nelina, Delclaux Christophe, Dauger Stéphane, d'Ortho Marie-Pia, Thoby-Brisson Muriel, Gallego Jorge, Matrot Boris
Abstract excerpt
Rationale: Congenital central hypoventilation syndrome (CCHS) is characterized by life-threatening sleep hypoventilation and is caused by PHOX2B gene mutations, most frequently the PHOX2B27Ala/+ mutation, with patients requiring lifelong ventilatory support. It is unclear whether obstructive apneas are part of the syndrome. Objectives: To determine if Phox2b27Ala/+ mice, which present the main symptoms of CCHS...
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