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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
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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 |