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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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13 Ιουλ 2016 · Congenital hypoventilation syndromes are a rare group of disorders that may be primary, e.g., congenital central hypoventilation syndrome (CCHS), or secondary, e.g., due to brainstem abnormalities in Arnold-Chiari malformation.
4 Αυγ 2017 · Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO2 receptors in the medulla.
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.
27 Σεπ 2016 · Congenital Central Hypoventilation Syndrome (CCHS) patients characteristically present with diminutive tidal volumes and monotonous respiratory rates asleep and awake, with more profound...
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of failure of automatic control of breathing and dysfunction of autonomic nervous system. 1, 2, 3 It is caused by a mutation in the PHOX2B gene that plays an important role in the migration of neural crest cells and development of the autonomic nervous system. 4, 5 ...
1 Νοε 2013 · Congenital central hypoventilation syndrome (CCHS) is characterized by hypoventilation during sleep and impaired ventilatory responses to hypercapnia and hypoxemia. Most cases are sporadic and caused by de novo PHOX2B gene mutations, which are usually polyalanine repeat expansions.
