Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ventilation and arousal during sleep. PHOX2B gene mutations are considered as res...

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Détails bibliographiques
Publié dans:Ital J Pediatr
Auteurs principaux: Paglietti, Maria Giovanna, Cherchi, Claudio, Porcaro, Federica, Agolini, Emanuele, Schiavino, Alessandra, Petreschi, Francesca, Novelli, Antonio, Cutrera, Renato
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6471850/
https://ncbi.nlm.nih.gov/pubmed/30999961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-019-0636-8
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