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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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Detalles Bibliográficos
Autores principales: Bishara, John, Keens, Thomas G, Perez, Iris A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241683/
https://www.ncbi.nlm.nih.gov/pubmed/30532577
http://dx.doi.org/10.2147/TACG.S140629