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Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome

PHOX2B 20/27 polyalanine repeat mutation (PARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally associated with full-time ventilator dependence, Hirschsprung disease, and increased risk for cardiac asystole. We follow a 14-year-old boy with CCHS PHOX2B 20/27 PARM who...

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Detalhes bibliográficos
Publicado no:J Clin Sleep Med
Main Authors: Kasi, Ajay S., Kun, Sheila S., Keens, Thomas G., Perez, Iris A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Sleep Medicine 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6287728/
https://ncbi.nlm.nih.gov/pubmed/30518452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.7542
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