ArticleBirth defects research. Part A, Clinical and molecular teratology2011
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.Clinical dysmorphology · 2012Pooled it
- Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism.Molecular genetics & genomic medicine · 2023Article
- Mitochondrial rRNA Methylation by Mettl15 Contributes to the Exercise and Learning Capability in Mice.International journal of molecular sciences · 2022Article
- Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone.Frontiers in genetics · 2022Article
- Developmental basis of trachea-esophageal birth defects.Developmental biology · 2021Review
- Structural basis for late maturation steps of the human mitoribosomal large subunit.Nature communications · 2021Article
- Human Mitoribosome Biogenesis and Its Emerging Links to Disease.International journal of molecular sciences · 2021Review
- Role of GTPases in Driving Mitoribosome Assembly.Trends in cell biology · 2021Review
- The Diseased Mitoribosome.FEBS letters · 2021Review
- Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.European journal of human genetics : EJHG · 2016Article
- Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Pediatric nephrology (Berlin, Germany) · 2016Review
- Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Current genomics · 2015Article
- A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.Journal of human genetics · 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
- De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.European journal of human genetics : EJHG · 2013Article
- VATER/VACTERL Association: Evidence for the Role of Genetic Factors.Molecular syndromology · 2013Article
- Clinical geneticists' views of VACTERL/VATER association.American journal of medical genetics. Part A · 2012Review
- Familial occurrence of the VATER/VACTERL association.Pediatric surgery international · 2012Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundTracheo-esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood. CASE REPORT: We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. One gene within the deleted interval, GTPBP5, is of particular interest as a candidate gene.
conclusionsGTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations.
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