ArticleClinical case reports2014
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Article in Clinical case reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Pulmonary sequestration with a rare renal artery subtype: a comprehensive clinicopathological analysis of 20 pediatric cases.BMC pulmonary medicine · 2026Article
- Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies.Annals of medicine · 2024Article
- Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?BMC pregnancy and childbirth · 2024Article
- Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.Orphanet journal of rare diseases · 2023Article
- Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy.Cureus · 2023Article
- Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review.Frontiers in pediatrics · 2023Article
- Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome.Journal of ultrasound · 2022Article
- Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.Molecular cytogenetics · 2022Article
- Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis.Molecular cytogenetics · 2019Article
- Application of karyotype analysis combined with BACs-on-Beads for prenatal diagnosis.Experimental and therapeutic medicine · 2018Article
- Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.Molecular syndromology · 2016Article
Corrections and comments
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Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
key clinical messageCopy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
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