ReviewJournal of medical genetics2016
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.
Review in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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
29 citing papers in PubMed.
- Loss ofGenes & diseases · 2026Article
- Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.Prenatal diagnosis · 2026Article
- In Vitro Fertilization and VACTERL Birth Defects.JAMA network open · 2026Article
- Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.International journal of molecular sciences · 2026Article
- Long overlooked: Adult VACTERL association unmasked by a large patent ductus arteriosus.Radiology case reports · 2025Article
- Anaesthesia for children with congenital heart disease undergoing non-cardiac surgery.BJA education · 2024Review
- Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia.Journal of anatomy · 2024Article
- Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.Pediatric nephrology (Berlin, Germany) · 2024Article
- Article
- Primary cilia are critical for tracheoesophageal septation.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Vertebral anomalies and VACTERL association in pontine tegmental cap dysplasia: a paediatric case report.BJR case reports · 2024Article
- Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.Children (Basel, Switzerland) · 2023Article
- Article
- Anorectal Malformations: The Pivotal Role of the Good Clinical Practice.Case reports in pediatrics · 2023Article
- Article
- Congenital musculoskeletal anomalies - key radiographic findings.Pediatric radiology · 2022Review
- Cross-sectional analysis and trend of vertebral and associated anomalies in Chinese congenital scoliosis population: a retrospective study of one thousand, two hundred and eighty nine surgical cases from 2010 to 2019.International orthopaedics · 2021Article
- The Classification of VACTERL Association into 3 Groups According to the Limb Defect.Plastic and reconstructive surgery. Global open · 2021Article
- Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients. Recent breakthroughs have suggested that genetic factors play an important role in VACTERL association, especially in those with vertebral phenotypes. In this review, we summarised the genetic studies of the VACTERL association, especially focusing on the genetic aetiology of patients with vertebral anomalies. Furthermore, genetic reports of other syndromes with vertebral phenotypes overlapping with VACTERL association are also included. We aim to provide a further understanding of the genetic aetiology and a better evidence for genetic diagnosis of the association and vertebral anomalies.
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