ArticleInternational journal of molecular sciences2017
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Article in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.European journal of pediatrics · 2025Article
- DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.European journal of human genetics : EJHG · 2024Article
- Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.Birth defects research · 2023Review
- Article
- c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.Noro psikiyatri arsivi · 2023Article
- Review
- Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.American journal of medical genetics. Part A · 2022Article
- Kabuki Syndrome: Identification of Two Novel Variants inMolecular syndromology · 2021Article
- Review
- Bonebridge implantation for mixed hearing loss in a patient with Kabuki syndrome.Acta bio-medica : Atenei Parmensis · 2020Article
- Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome.American journal of medical genetics. Part A · 2020Article
- A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.Genome medicine · 2019Article
- Epigenetics of Neurodevelopmental Disorders Comes of Age with Roles in Clinical and Educational Applications.International journal of molecular sciences · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in
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.