ArticleMolecular syndromology2021
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.
Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Revisiting Wiedemann-Steiner Syndrome: NovelBalkan medical journal · 2026Article
- Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.BMC medical genomics · 2025Article
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.Human mutation · 2025Article
- Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.Frontiers in genetics · 2023Article
- Wiedemann-Steiner Syndrome: Case Report and Review of Literature.Children (Basel, Switzerland) · 2022Article
- Article
- Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome.Frontiers in endocrinology · 2022Article
- Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.Frontiers in pediatrics · 2022Article
- Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.Frontiers in cell and developmental biology · 2022Review
- Wiedemann-Steiner Syndrome with a Pathogenic Variant inChildren (Basel, Switzerland) · 2021Article
- Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.Scientific reports · 2021Article
- Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.Frontiers in neuroscience · 2021Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with a variable clinical phenotype including synophrys, hypertelorism, thick eyebrows, long eyelashes, wide nasal bridge, long philtrum, hypertrichosis, growth retardation, and intellectual disability. Cornelia de Lange syndrome (CdLS) is a rare disease characterized by synophrys, long eyelashes, limb abnormalities, generalized hirsutism, growth retardation, and intellectual disability. In both WDSTS and CdLS, the malformations are due to transcriptome disturbance caused by defects in the genes encoding the components of chromatin regulation and transcription process. The overlapping features in these two syndromes may complicate the original diagnosis of a patient. Here, we report on a Wiedemann-Steiner patient found to have a de novo pathogenic
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