No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia☆
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Cited by (17)
Abnormal lung development in congenital diaphragmatic hernia
2017, Seminars in Pediatric SurgeryCitation Excerpt :Deletion of part of chromosome 15 (15q26), which contains COUP-TFII, could account for some instances of CDH, although it is very rare (1.5%).85 Evidence for WT1 mutations is not encouraging in isolated CDH,86 but mutations exist when CDH occurs with Denys–Drash syndrome.87 CDH has been reported in Wilms׳ tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, which involves WT1 deletion.88
Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
2014, European Journal of Medical GeneticsCurrent concepts on the pathogenesis and etiology of congenital diaphragmatic hernia
2013, Respiratory Physiology and NeurobiologyCitation Excerpt :Further, there are reports linking defects in WT1 with CDH in humans (Devriendt et al., 1995; Reardon et al., 2004; Scott et al., 2005). However, it is clear that not all cases of CDH are associated with defects in WT1 (Nordenskjold et al., 1996). No mutations in COUP-TFII have yet been found in CDH samples (Scott, 2007; Goumy et al., 2010).
Association between WAGR syndrome and diaphragmatic hernia
2006, Anales de PediatriaThe genetics of congenital diaphragmatic hernia
2005, Seminars in PerinatologyCongenital diaphragmatic hernia
2002, Paediatric Respiratory Reviews
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Supported by The Swedish Child Cancer Fund, the Crownprincess Lovisa Foundation, and the Samariten Foundation.