ReviewGenes2021
Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 39 citations in OpenAlex.
- Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.European journal of pediatrics · 2026Article
- A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.Journal of medical case reports · 2026Article
- Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report.Case reports in obstetrics and gynecology · 2026Article
- Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.BMC ophthalmology · 2025Article
- Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.Pediatric investigation · 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
- Article
- Case Report: A novel intronic variant ofFrontiers in genetics · 2025Article
- The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.Cellular and molecular life sciences : CMLS · 2024Article
- Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.Journal of clinical medicine · 2024Review
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.Development (Cambridge, England) · 2024Article
- Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.BMC medical genomics · 2024Review
- An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.Frontiers in genetics · 2024Article
- Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases.Signal transduction and targeted therapy · 2023Review
- Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.Genetics · 2023Article
- Phenotypes and Genotypes in Patients withGenes · 2023Article
- Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with NovelMolecular syndromology · 2023Article
- Review
- Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.Stem cell research & therapy · 2022Article
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of clinical expression. By increasing the number of patients described, knowledge of the natural history of the condition has been enriched with the demonstration of the relative frequency of various potential comorbidities. Since 2006, the discovery of CdLS's molecular basis has shown an equally vast genetic heterogeneity linked to the presence of variants in genes encoding for the cohesin complex pathway. The most recent clinical-genetic data led to the classification of the "original syndrome" into a "clinical spectrum" that foresees the presence of classic patients, of non-classic forms, and of conditions that show a modest phenotypic overlapping with the original disease. Finally, the knowledge of the molecular basis of the disease has allowed the development of basic research projects that could lay the foundations for the development of possible innovative pharmacological treatments.
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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.