ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 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
44 citing papers in PubMed, 71 citations in OpenAlex.
- Treatment of overactive KScientific reports · 2025Trial
- Cognitive Decline, Neurologic Involvement, and Neonatal Crisis inNeurology. Genetics · 2026Article
- Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026Review
- From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome.Diagnostics (Basel, Switzerland) · 2026Article
- Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings.Clinical case reports · 2026Article
- Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.The Journal of general physiology · 2025Article
- More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family's Medical Narrative.Journal of clinical medicine · 2025Article
- Bayliss-Starling Prize Lecture: KThe Journal of physiology · 2025Article
- Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.JCEM case reports · 2025Article
- An Infant with High-Output Heart Failure and Pulmonary Hypertension Resulting from a Giant Cutaneous Hemangioma.Pediatric cardiology · 2025Article
- A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.American journal of medical genetics. Part A · 2024Article
- Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.Function (Oxford, England) · 2024Article
- Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.JCI insight · 2024Article
- Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.Brain : a journal of neurology · 2024Article
- Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.BMC pediatrics · 2023Review
- Wnt signaling regulates ion channel expression to promote smooth muscle and cartilage formation in developing mouse trachea.American journal of physiology. Lung cellular and molecular physiology · 2023Article
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KThe Journal of pharmacology and experimental therapeutics · 2023Article
- Wnt signaling regulates ion channel expression to promote smooth muscle and cartilage formation in developing mouse trachea.bioRxiv : the preprint server for biology · 2023Article
- Current state of rare disease registries and databases in Australia: a scoping review.Orphanet journal of rare diseases · 2023Article
- The inhibition mechanism of the SUR2A-containing KNature communications · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
Abstract
Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (K
Indexed as
Identifiers
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.