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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.
28 Ιαν 2004 · The diagnosis of congenital central hypoventilation syndrome (CCHS) is established in a proband with suggestive findings and a heterozygous PHOX2B pathogenic variant (or likely pathogenic variant) identified on molecular genetic testing (see Table 1).
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.
Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, caused by mutations in the paired-like homeobox gene PHOX2B, which alters control of breathing and autonomic nervous system regulation, necessitating artificial ventilation as life-support.
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...
10 Φεβ 2024 · Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder characterized by central hypoventilation and apnea due to attenuated or absent peripheral and...
25 Νοε 2023 · Congenital central hypoventilation syndrome (CCHS) is a rare condition characterized by central hypoventilation, leading to the majority of patients being dependent on ventilatory support during sleep.
