ReviewThe application of clinical genetics2018
The genetics of congenital central hypoventilation syndrome: clinical implications.
Review in The application of clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 51 citations in OpenAlex.
- A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification.Nature communications · 2025Article
- Zebrafish Congenital Heart Disease Models: Opportunities and Challenges.International journal of molecular sciences · 2024Review
- Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.European journal of pediatrics · 2024Article
- [Two children with late-onset congenital central hypoventilation syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Article
- Perioperative outcomes and the effects of anesthesia in congenital central hypoventilation patients.Sleep & breathing = Schlaf & Atmung · 2023Article
- Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.PloS one · 2022Article
- Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach.Journal of multidisciplinary healthcare · 2022Review
- Case Report: A novelFrontiers in pediatrics · 2022Article
- Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.Molecular biology reports · 2021Article
- Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea.BMJ case reports · 2021Article
- Article
- Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.Translational pediatrics · 2021Article
- Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novelBMJ case reports · 2021Article
- The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.Frontiers in pediatrics · 2021Review
- Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?Frontiers in pediatrics · 2021Article
- Some congenital diseases may just show up later.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2020Article
- Long Term Non-invasive Ventilation in Children With Central Hypoventilation.Frontiers in pediatrics · 2020Review
- Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS).Frontiers in neuroscience · 2020Review
- Noninvasive ventilation in a young infant with congenital central hypoventilation and 7-year follow-up.Pediatric investigation · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.