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Congenital Central Hypoventilation Syndrome and the PHOX2B Gene: A Model of Respiratory and Autonomic Dysregulation

The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndrome (CCHS). Individuals with CCHS typically present in the newborn period with alveolar hypoventilation during sleep and often during wakefulness, altered respiratory control including...

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Autors principals: Patwari, Pallavi P., Carroll, Michael S., Rand, Casey M., Kumar, Rajesh, Harper, Ronald M., Weese-Mayer, Debra E.
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946468/
https://ncbi.nlm.nih.gov/pubmed/20601214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.resp.2010.06.013
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