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• W1855588443 abstract "Congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar hypoventilation and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation and pathologic abnormalities. Presentation is typically during the newborn period with alveolar hypoventilation during sleep, or in more severely affected individuals, during sleep and wakefulness. Breathing complications occur despite the lungs and airways being normal. Disordered respiratory control demonstrated by absent or severely attenuated ventilatory, behavioral, and arousal responses to both endogenous and exogenous hypoxemia and hypercarbia results in severe physiologic compromise." @default.
• W1855588443 created "2016-06-24" @default.
• W1855588443 creator A5011123487 @default.
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• W1855588443 date "2014-09-01" @default.
• W1855588443 modified "2023-10-07" @default.
• W1855588443 title "Congenital Central Hypoventilation Syndrome" @default.
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• W1855588443 doi "https://doi.org/10.1016/j.ccm.2014.06.010" @default.
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