ArticleJournal of genetics2015
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
Article in Journal of genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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Who cites it
13 citing papers in PubMed.
- Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.European journal of human genetics : EJHG · 2026Observational
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.International journal of molecular sciences · 2024Review
- Review
- The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.Genes · 2023Review
- The therapeutic effects of physical treatment for patients with hereditary spastic paraplegia: a narrative review.Frontiers in neurology · 2023Review
- Neuroimaging features of WOREE syndrome: a mini-review of the literature.Frontiers in pediatrics · 2023Review
- Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.Frontiers in neurology · 2023Review
- Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.Journal of pediatric genetics · 2022Article
- Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome.Frontiers in endocrinology · 2022Article
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.American journal of medical genetics. Part A · 2021Observational
- A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.Molecular biology reports · 2019Article
- Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.Colombia medica (Cali, Colombia) · 2019Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
26690532What 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.