ReviewNature reviews. Disease primers2021
Williams syndrome.
Review in Nature reviews. Disease primers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
120 citing papers in PubMed, 1 synthesis or guideline pooled it, 231 citations in OpenAlex.
- Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta-Analysis.Journal of intellectual disability research : JIDR · 2025Pooled it
- Severe arterial hypertension, a silent complication of Williams-Beuren syndrome: A case report with literature review.Radiology case reports · 2026Article
- Genetic elastic fiber disorders as neurovascular syndromes: An emerging perspective.Neural regeneration research · 2026Article
- Central Precocious Puberty in Williams Syndrome: Two Cases Illustrating Diagnostic Challenges and Individualized Management.Clinical case reports · 2026Article
- Article
- In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome.Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence · 2026Article
- Dermatologic manifestations in an adult with Williams syndrome.JAAD case reports · 2026Article
- Mitochondrial dynamics in neurodevelopment and neurodevelopmental disorders.Nature reviews. Neuroscience · 2026Review
- Exploring the Neural Substrates of Number Sense: A Perspective on Genetics, Behaviour and Neural Circuity.The European journal of neuroscience · 2026Review
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
- Normative data for interorbital distance in a paediatric Caucasian population.Surgical and radiologic anatomy : SRA · 2026Article
- Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.Behavioral sciences (Basel, Switzerland) · 2026Article
- The lasting burden of gender discrimination in medicine: lifelong multisystem consequences of Rathke's pouch resection in Williams syndrome.International journal of surgery (London, England) · 2026Article
- Behaviour and Psychopathology in Preschool Children with William Syndrome and the Effects of Age, Sex and Cognition.Journal of autism and developmental disorders · 2026Article
- Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations.Journal of intellectual disability research : JIDR · 2026Article
- Sphingosine kinase 1 is integral for elastin deficiency-induced arterial hypermuscularization.Nature cardiovascular research · 2026Article
- WSTF-associated regulation of GLYCTK and metabolic adaptation in colorectal cancer.Frontiers in immunology · 2026Article
- Case Report: Prenatal clues and postnatal evolution: a case of williams syndrome diagnosed following progressive cardiovascular phenotypes.Frontiers in pediatrics · 2026Article
- Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.Molecular genetics & genomic medicine · 2026Article
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 7 institutions in 5 countries.
Funding
Abstract
Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis. The deletion size is similar across most individuals with WS and leads to the loss of one copy of 25-27 genes on chromosome 7q11.23. The resulting unique disorder affects multiple systems, with cardinal features including but not limited to cardiovascular disease (characteristically stenosis of the great arteries and most notably supravalvar aortic stenosis), a distinctive craniofacial appearance, and a specific cognitive and behavioural profile that includes intellectual disability and hypersociability. Genotype-phenotype evidence is strongest for ELN, the gene encoding elastin, which is responsible for the vascular and connective tissue features of WS, and for the transcription factor genes GTF2I and GTF2IRD1, which are known to affect intellectual ability, social functioning and anxiety. Mounting evidence also ascribes phenotypic consequences to the deletion of BAZ1B, LIMK1, STX1A and MLXIPL, but more work is needed to understand the mechanism by which these deletions contribute to clinical outcomes. The age of diagnosis has fallen in regions of the world where technological advances, such as chromosomal microarray, enable clinicians to make the diagnosis of WS without formally suspecting it, allowing earlier intervention by medical and developmental specialists. Phenotypic variability is considerable for all cardinal features of WS but the specific sources of this variability remain unknown. Further investigation to identify the factors responsible for these differences may lead to mechanism-based rather than symptom-based therapies and should therefore be a high research priority.
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Identifiers
What Socratic 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 Socratic graph.