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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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| Publicado no: | J Clin Sleep Med |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Academy of Sleep Medicine
2018
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| 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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