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Last Updated: 10/31/2025
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Found 499 publications
Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.
Journal: BMJ case reports
Published: August 09, 2025
Cesarean delivery with low-dose combined spinal epidural in a patient with congenital central hypoventilation syndrome: a case report.
Journal: International journal of obstetric anesthesia
Published: July 02, 2025
Respiratory events and sleep structure of children suffering from congenital central hypoventilation syndrome under assisted ventilation: a cross-sectional descriptive study.
Journal: Sleep & breathing = Schlaf & Atmung
Published: April 30, 2025
The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.
Journal: Frontiers in physiology
Published: April 23, 2025
A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: March 25, 2025
Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: March 21, 2025
Current Status and Challenges of Diaphragm Pacing in Japan: A Systematic Review of Case Reports.
Journal: Cureus
Published: March 18, 2025
Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation.
Journal: Neurology. Genetics
Published: February 24, 2025
Early Findings on the Effectiveness of Novel Awakening Stimuli for Patients with Congenital Central Hypoventilation Syndrome.
Journal: Sensors (Basel, Switzerland)
Published: December 27, 2024
Congenital Central Hypoventilation Syndrome (CCHS): Patient Quality of Life and Caregiver Burden.
Journal: Pediatric pulmonology
Published: December 23, 2024
Reliability of Composite Autonomic Symptom Score (COMPASS)-31 in Congenital Central Hypoventilation Syndrome.
Journal: Pediatric pulmonology
Published: November 21, 2024
Last Updated: 10/31/2025