Αποτελέσματα Αναζήτησης
28 Ιαν 2004 · Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control.
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.
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. Characteristics...
12 Ιαν 2021 · Congenital central hypoventilation syndrome (CCHS) is a genetic disorder of neurodevelopment, with an autosomal dominant transmission, caused by heterozygous mutations in the PHOX2B gene.
6 Ιαν 2021 · Congenital central hypoventilation syndrome (CCHS) is caused by a mutation in the highly conserved PHOX2B gene, a gene essential to the embryologic development of the autonomic nervous system and intact control of breathing.
20 Σεπ 2021 · Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems.
