ReviewEuropean journal of medical genetics
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.
Review in European journal of medical genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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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Who cites it
41 citing papers in PubMed, 109 citations in OpenAlex.
- Article
- The mouth or the nose: the past, present, and future of ultra-slim gastroscopy of the upper gastrointestinal tract in pediatrics.Frontiers in pediatrics · 2025Review
- Single-cell analysis reveals the spatial-temporal expression of genes associated with esophageal malformations.Scientific reports · 2024Article
- Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.HGG advances · 2022Article
- First genome-wide association study of esophageal atresia identifies three genetic risk loci atHGG advances · 2022Article
- From the Ground Up: Esophageal Atresia Types, Disease Severity Stratification and Survival Rates at a Single Institution.Frontiers in surgery · 2022Article
- Mice lacking DYRK2 exhibit congenital malformations with lung hypoplasia and altered Foxf1 expression gradient.Communications biology · 2021Article
- Transcriptomics unravels molecular players shaping dorsal lip hypertrophy in the vacuum cleaner cichlid, Gnathochromis permaxillaris.BMC genomics · 2021Article
- Forkhead box F1 induces columnar phenotype and epithelial-to-mesenchymal transition in esophageal squamous cells to initiate Barrett's like metaplasia.Laboratory investigation; a journal of technical methods and pathology · 2021Article
- Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.European journal of human genetics : EJHG · 2021Article
- Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.Molecular syndromology · 2020Article
- Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia.BMC pediatrics · 2020Article
- Eosinophilic Esophagitis in Esophageal Atresia.Frontiers in pediatrics · 2019Review
- Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.Molecular genetics & genomic medicine · 2018Article
- Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula.Current gastroenterology reports · 2017Review
- The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.Journal of medical genetics · 2016Review
- Rhinocerebral zygomycosis: an unusual dramatic presentation in a paediatric cardiac patient without risk factors.European heart journal supplements : journal of the European Society of Cardiology · 2016Article
- Respiratory Care of Infants and Children with Congenital Tracheo-Oesophageal Fistula and Oesophageal Atresia.Paediatric respiratory reviews · 2016Review
- Review
- One shall become two: Separation of the esophagus and trachea from the common foregut tube.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal and Limb malformations) is the most recognised. Recently, microdeletions of the FOX gene cluster at 16q24.1, comprising four genes, FOXF1, MTHFSD, FOXC2 and FOXL1, were reported to cause a phenotype resembling VACTERL association, with vertebral anomalies, gastro-intestinal atresias (esophageal, duodenal and anal), congenital heart malformations, and urinary tract malformations, as well as a rare lethal developmental anomaly of the lung, alveolar capillary dysplasia. This article reviews these new data alongside other genetic causes of syndromic esophageal atresia, and also highlights information from relevant mouse models, particularly those for genes in the Sonic Hedgehog pathway.
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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.