ArticleMolecular syndromology2012
Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.
Article in Molecular syndromology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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.
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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.
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Who cites it
11 citing papers in PubMed, 25 citations in OpenAlex.
- Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.Medicina (Kaunas, Lithuania) · 2025Article
- Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- Premature Thelarche: An Updated Review.Current pediatric reviews · 2024Review
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Underlying genetic etiologies of congenital diaphragmatic hernia.Prenatal diagnosis · 2022Review
- Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.American journal of medical genetics. Part A · 2021Article
- A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki SyndromeJournal of clinical research in pediatric endocrinology · 2021Article
- The Role ofGenes · 2021Review
- A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.Journal of human genetics · 2019Article
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Disease models & mechanisms · 2017Review
- Genetic causes of congenital diaphragmatic hernia.Seminars in fetal & neonatal medicine · 2014Review
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
We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonatal/persistent hypoglycemia and eventration of the diaphragm. She was found to have a previously unreported nonsense MLL2 mutation. This is the first case that includes all such findings occurring simultaneously that was genotyped.
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Registered trials
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