ArticleMolecular syndromology2013
Considering the Embryopathogenesis of VACTERL Association.
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 28 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.
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Who cites it
28 citing papers in PubMed.
- Loss ofGenes & diseases · 2026Article
- LACHT syndrome with branchial cyst in a female infant; case report and review of literature.BMC pediatrics · 2026Review
- A Population-Based Assessment of Cancer Risk in Children With VACTERL.American journal of medical genetics. Part A · 2026Article
- The interplay between the cardiovascular system and pediatric congenital or acquired kidney diseases.Pediatric nephrology (Berlin, Germany) · 2025Review
- Trio Exome Sequencing in VACTERL Association.Kidney international reports · 2025Article
- Review: Hormone Pregnancy Tests Were Teratogenic by the Same Failed Abortion and Hypoxia-Related Mechanism as Misoprostol.Birth defects research · 2025Review
- Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.Human genomics · 2025Article
- Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.Orphanet journal of rare diseases · 2024Article
- A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.Scientific reports · 2023Article
- Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.Children (Basel, Switzerland) · 2023Article
- Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.Frontiers in pediatrics · 2023Article
- The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.Clinical genetics · 2022Article
- New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.Human mutation · 2021Article
- The Classification of VACTERL Association into 3 Groups According to the Limb Defect.Plastic and reconstructive surgery. Global open · 2021Article
- Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.Molecular syndromology · 2020Article
- Prevalence of congenital malformations at the "les Orangers" maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies.BMC pediatrics · 2020Article
- Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.American journal of human genetics · 2020Article
- The VACTERL association: mosaic mitotic aneuploidy as a cause and a model.Journal of assisted reproduction and genetics · 2019Review
- Article
- 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
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, recognized as the VACTERL association, has not been satisfactorily explained from either a causation or embryopathogenesis standpoint. Few familial cases have been identified and maternal diabetes is the only environmental influence implicated to date. Mutations in single genes have been found in a number of syndromes with one or more of the VACTERL malformations, but these syndromes usually have other features which distinguish them from the VACTERL association. Animal models have provided clues to molecular pathways that may be involved in the embryogenesis of the VACTERL structures. What is lacking is the systematic study of individual genes and pathways in well-composed cohorts of patients, which is now possible with high throughput molecular technologies.
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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.