ArticleMolecular syndromology2013
VATER/VACTERL Association: Evidence for the Role of Genetic Factors.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
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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
18 citing papers in PubMed.
- VACTERL association: a case report highlighting multisystem anomalies and the critical need for multidisciplinary care in Palestine.International journal of surgery case reports · 2026Article
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.Journal of clinical medicine · 2024Article
- Maternal risk associated with the VACTERL association: A case-control study.Birth defects research · 2020Article
- Noggin regulates foregut progenitor cell programming, and misexpression leads to esophageal atresia.The Journal of clinical investigation · 2020Article
- Maternal risk factors for the VACTERL association: A EUROCAT case-control study.Birth defects research · 2020Article
- Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.Pediatric research · 2020Article
- A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Pediatric surgery international · 2018Review
- Genetic Testing in a Cohort of Complex Esophageal Atresia.Molecular syndromology · 2017Article
- Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.Neonatology · 2017Article
- Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.Journal of medical case reports · 2016Review
- Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.European journal of human genetics : EJHG · 2016Article
- Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.European journal of pediatrics · 2016Article
- Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Current genomics · 2015Article
- Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association.Indian journal of pediatrics · 2015Article
- An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.The Journal of pediatrics · 2014Review
- Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.PloS one · 2014Article
- VACTERL association in a fetus with multiple congenital malformations - Case report.Journal of medicine and lifeArticle
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. The involvement of genetic factors in the development of this rare association is suggested by reports of familial occurrence, the increased prevalence of component features among first-degree relatives of affected individuals, high concordance rates among monozygotic twins, chromosomal (micro-)aberrations or single gene mutations in individuals with the VATER/VACTERL phenotype, as well as murine knock-out models. Despite substantial efforts over the past decade, the genetic etiology of the VATER/VACTERL association in most instances remains elusive. The application of new genomic technologies such as high-resolution copy number variation studies or next-generation exome sequencing might lead to the identification of some of these causes.
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Registered trials
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