ReviewGenes2021
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
52 citing papers in PubMed, 92 citations in OpenAlex.
- Chromatin condensates tune nuclear mechanosensing and preserve nuclear integrity to prevent cGAS activation.The EMBO journal · 2026Article
- Clinical Implications of Prenatal Ultrasonographic Detection of Horseshoe Kidney: Association with Postnatal Outcomes.Diagnostics (Basel, Switzerland) · 2026Article
- Review
- A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.International journal of molecular sciences · 2026Article
- Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.Pediatric nephrology (Berlin, Germany) · 2026Article
- Increased risk for severe peripheral arterial disease in Kabuki syndrome.Journal of vascular surgery cases and innovative techniques · 2026Article
- A rare cause of liver cirrhosis in an adult.Gastroenterology report · 2026Article
- Reduced TBX5 dosage undermines developmental control of atrial cardiomyocyte identity in a model of human atrial disease.Development (Cambridge, England) · 2026Article
- Review
- Case Report: Exploring KMT2D mutation in Shone syndrome.Frontiers in cardiovascular medicine · 2026Article
- Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant.Case reports in ophthalmological medicine · 2026Article
- A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature.Journal of medical case reports · 2025Review
- Deficiency of KMT2D causes autistic-like behavior in mice and zebrafish.Communications biology · 2025Article
- KMT2D Regulates Tooth Enamel Development.Journal of dental research · 2025Article
- Mechanism of KMT2D-mediated epigenetic modification in IL-1β-induced nucleus pulposus cell degeneration.Histology and histopathology · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Behavioural impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations.Acta neuropsychiatrica · 2025Article
- Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.Molecular syndromology · 2025Article
- Expert consensus on classification and diagnosis of congenital orofacial cleft.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the
Indexed as
Identifiers
What Socratic 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 Socratic graph.