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Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes

BACKGROUND: Congenital central hypoventilation syndrome (CCHS), a rare disease caused by variants in the paired-like homeobox 2B (PHOX2B) gene, affects regulation of respiration necessitating lifelong assisted ventilation (AV). Most patients require full-time AV during infancy and some patients may...

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Detalles Bibliográficos
Autores principales: Fain, Mary Ellen, Westbrook, Adrianna L, Kasi, Ajay S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226304/
https://www.ncbi.nlm.nih.gov/pubmed/37256017
http://dx.doi.org/10.1177/11795565231169556