Guidelines for diagnosis and management of congenital central hypoventilation syndrome

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Trang, Ha, Samuels, Martin, Ceccherini, Isabella, Frerick, Matthias, Garcia-Teresa, Maria Angeles, Peters, Jochen, Schoeber, Johannes, Migdal, Marek, Markstrom, Agneta, Ottonello, Giancarlo, Piumelli, Raffaele, Estevao, Maria Helena, Senecic-Cala, Irena, Gnidovec-Strazisar, Barbara, Pfleger, Andreas, Porto-Abal, Raquel, Katz-Salamon, Miriam
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7503443/
https://ncbi.nlm.nih.gov/pubmed/32958024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01460-2
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