Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation

PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to be associated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individuals...

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Detalhes bibliográficos
Publicado no:J Clin Sleep Med
Main Authors: Kasi, Ajay S., Jurgensen, Taryn J., Yen, Stephanie, Kun, Sheila S., Keens, Thomas G., Perez, Iris A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Sleep Medicine 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5482585/
https://ncbi.nlm.nih.gov/pubmed/28633714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.6670
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