Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is caused by the paired-like homeobox 2B (PHOX2B) mutation and predominantly diagnosed during the neonatal period. Although late-onset CCHS and PHOX2B mutation carriers have been reported, the features of these disease states in ad...

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Detalhes bibliográficos
Publicado no:J Clin Sleep Med
Main Authors: Hino, Aoi, Terada, Jiro, Kasai, Hajime, Shojima, Hikaru, Ohgino, Keiko, Sasaki, Ayako, Hayasaka, Kiyoshi, Tatsumi, Koichiro
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Sleep Medicine 2020
Assuntos:
Scientific Investigations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8034226/
https://ncbi.nlm.nih.gov/pubmed/32741443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.8732
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