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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.
13 Ιουλ 2020 · Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by sleep apnea and an autonomic nervous system dysfunction in the neonatal period; it was first reported by Mellins et al. in 1970 . The estimated incidence of CCHS is approximately 1 in 200,000 live births .
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.
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. This condition is often accompanied by various associated symptoms, due to a PHOX2B gene variant involved in neuronal crest cell migration.
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 central...
