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
Copyright policy )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
AbstractBACKGROUNDTracheo‐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 REPORTWe 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. Birth Defects Research (Part A) 2011. © 2011 Wiley‐Liss, Inc.
- National Institutes of Health United States
- National Institute of Health Pakistan
- National Human Genome Research Institute United States
- Howard Hughes Medical Institute United States
- National Institute of Health (NIH/NICHD) United States
Heart Defects, Congenital, Male, Chromosomes, Human, Pair 20, Infant, Newborn, Case Report, Genitalia, Male, Humans, Chromosome Deletion, Urinary Tract, Monomeric GTP-Binding Proteins, Tracheoesophageal Fistula
Heart Defects, Congenital, Male, Chromosomes, Human, Pair 20, Infant, Newborn, Case Report, Genitalia, Male, Humans, Chromosome Deletion, Urinary Tract, Monomeric GTP-Binding Proteins, Tracheoesophageal Fistula
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).24 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!