ArticleAmerican journal of human genetics2000
Familial syndromic esophageal atresia maps to 2p23-p24.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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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
10 citing papers in PubMed, 35 citations in OpenAlex.
- Article
- Review
- Transcription factors in microcephaly.Frontiers in neuroscience · 2023Review
- Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.PloS one · 2020Article
- Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2.Behavior genetics · 2015Article
- Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.European journal of human genetics : EJHG · 2011Article
- End-stage renal failure, reflux nephropathy and Feingold's syndrome.Pediatric nephrology (Berlin, Germany) · 2008Article
- Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.Journal of medical genetics · 2006Review
- Double bubble, double trouble.Pediatric surgery international · 2005Article
- Genetics and developmental biology of oesophageal atresia and tracheo-oesophageal fistula: lessons from mice relevant for paediatric surgeons.Pediatric surgery international · 2004Review
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED) syndrome (also known as "Feingold syndrome") is a rare autosomal dominant disorder with digital abnormalities, microcephaly, short palpebral fissures, mild learning disability, and esophageal/duodenal atresia. We studied four pedigrees, including a three-generation Dutch family with 11 affected members. Linkage analysis was initially aimed at chromosomal regions harboring candidate genes for this disorder. Twelve different genomic regions covering 15 candidate genes (approximately 15% of the genome) were excluded from involvement in the ODED syndrome. A subsequent nondirective mapping approach revealed evidence for linkage between the syndrome and marker D2S390 (maximum LOD score 4.51 at recombination fraction 0). A submicroscopic deletion in a fourth family with ODED provided independent confirmation of this genetic localization and narrowed the critical region to 7.3 cM in the 2p23-p24 region. These results show that haploinsufficiency for a gene or genes in 2p23-p24 is associated with syndromic EA.
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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.