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21 Σεπ 2020 · Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS.
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Congenital Central Hypoventilation Syndrome (CCHS) is a rare...
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Introduction. Hirschsprung’s disease is a congenital defect...
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Congenital central alveolar hypoventilation in the absence of neuromuscular or lung disease is characterized by normal ventilation while the patient is awake but hypoventilation with normal respiratory rates and shallow breathing (di- minished tidal volume) during sleep. The severity of hypo-
1 Απρ 2021 · Background: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in paired-like homeobox 2B (PHOX2B) gene....
1 Ιαν 2008 · Congenital central hypoventilation syndrome (CCHS) is characterized by a classic presentation in newborns and a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults.
18 Αυγ 2016 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene.
30 Ιαν 2014 · Disease characteristics. Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory and autonomic regulation. It is typically characterized by a classic presentation in newborns and, rarely, a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults.
4 Φεβ 2014 · Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges. Karin Ljubič, Iztok Fister. Published 4 February 2014. Medicine. TLDR. The genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with congenital central hypoventilation syndrome are described. Expand.
