ArticleAmerican journal of medical genetics. Part A2019
Beckwith-Wiedemann syndrome in diverse populations.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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
17 citing papers in PubMed, 22 citations in OpenAlex.
- Myogenic dysregulation underlies human tongue overgrowth in Beckwith-Wiedemann syndrome.iScience · 2026Article
- Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review.Translational pediatrics · 2026Review
- Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.Italian journal of pediatrics · 2025Review
- Renal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification.Orphanet journal of rare diseases · 2025Article
- Article
- Surgical approach to a rare case of Beckwith Wiedemann syndrome with left thigh hyperplasia.JPRAS open · 2024Article
- Article
- Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.Annals of laboratory medicine · 2022Article
- Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.International journal of environmental research and public health · 2022Article
- Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.Molecular genetics & genomic medicine · 2021Review
- Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.Journal of pediatric genetics · 2021Article
- Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management.Frontiers in pediatrics · 2021Article
- The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?Pediatric research · 2021Review
- Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China.Translational pediatrics · 2020Article
- Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.Disease models & mechanisms · 2020Review
- Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.Italian journal of pediatrics · 2020Article
- Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases.Indian journal of pediatrics · 2020Article
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 1 institution in 1 country.
Funding
Abstract
Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype-phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethnic backgrounds, no study to date has evaluated the frequency of findings in different backgrounds. In this study, we evaluated the incidence of clinical features and molecular diagnoses among patients with BWS in Caucasian, Mixed, and non-Caucasian groups. These results suggest that clinical features and molecular diagnoses differ between race/ethnicity groups and raise the possibility of race and ethnicity effects on genotype-phenotype correlations in BWS.
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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 OpenQuestion graph.