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Congenital central hypoventilation syndrome: diagnostic and management challenges

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. Affected patients have absent or negligible ventilatory sensitivity...

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Publicat a:Pediatric Health Med Ther
Autors principals: Kasi, Ajay S, Perez, Iris A, Kun, Sheila S, Keens, Thomas G
Format: Artigo
Idioma:Inglês
Publicat: Dove Medical Press 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5683295/
https://ncbi.nlm.nih.gov/pubmed/29388615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/PHMT.S95054
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