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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).
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.
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.
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 CO 2 receptors in the medulla.
CCHS is a rare disorder that is present across the world, with an estimated incidence of 1 per 200,000 live births in France. 9,10 Reliable estimates of prevalence in the United States and other countries are not currently available. The male to female ratio in many countries is reported to be 1:1. 9,10.
28 Φεβ 2018 · Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene.
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.
