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The genetics of congenital central hypoventilation syndrome: clinical implications
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine’s curse, is due to a mutation in the PHOX2B gene that affects the development of the neural crest cells. CCHS has...
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| Publicado no: | Appl Clin Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6241683/ https://ncbi.nlm.nih.gov/pubmed/30532577 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S140629 |
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