{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T17:40:51Z","timestamp":1789926051697,"version":"4.0.1"},"reference-count":77,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018948","name":"Saudi Arabian Cultural Bureau","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018948","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Physiol."],"abstract":"<jats:p>Congenital heart defects (CHD) include structural abnormalities of the heart or\/and great vessels that are present at birth. CHD affects around 1% of all newborns worldwide. Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital cardiac abnormality, affecting three out of every 10,000 live infants with a prevalence rate of 5\u201310% of all congenital cardiac defects. The four hallmark characteristics of TOF are: right ventricular hypertrophy, pulmonary stenosis, ventricular septal defect, and overriding aorta. Approximately 20% of cases of TOF are associated with a known disease or chromosomal abnormality, with the remaining 80% of TOF cases being non-syndromic, with no known aetiology. Relatively few TOF patients have been studied, and little is known about critical causative genes for non-syndromic TOF. However, rare genetic variants have been identified as significant risk factors for CHD, and are likely to cause some cases of TOF. Therefore, this review aims to provide an update on well-characterized genes and the most recent variants identified for non-syndromic TOF.<\/jats:p>","DOI":"10.3389\/fphys.2022.1012665","type":"journal-article","created":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T09:13:15Z","timestamp":1665047595000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":34,"title":["Genetic insights into non-syndromic Tetralogy of Fallot"],"prefix":"10.3389","volume":"13","author":[{"given":"Nouf J.","family":"Althali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn E.","family":"Hentges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.ajhg.2014.06.013","article-title":"Rare variants in NR2F2 cause congenital heart defects in humans","volume":"95","author":"Al Turki","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"3593","DOI":"10.1242\/dev.063610","article-title":"Notch signaling: Simplicity in design, versatility in function","volume":"138","author":"Andersson","year":"2011","journal-title":"Development"},{"key":"B3","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/1750-1172-4-2","article-title":"Tetralogy of Fallot","volume":"4","author":"Bailliard","year":"2009","journal-title":"Orphanet J. Rare Dis."},{"key":"B4","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1002\/Humu.21231","article-title":"Jagged1 (Jag1) mutations in patients with tetralogy of Fallot or pulmonic stenosis","volume":"31","author":"Bauer","year":"2010","journal-title":"Hum. Mutat."},{"key":"B5","doi-asserted-by":"publisher","first-page":"R10","DOI":"10.1530\/erp-18-0049","article-title":"Educational series in congenital heart disease: Tetralogy of Fallot: Diagnosis to long-term follow-up","volume":"6","author":"Bedair","year":"2019","journal-title":"Echo Res. Pract."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.1172\/jci8154","article-title":"Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways","volume":"104","author":"Benson","year":"1999","journal-title":"J. Clin. Invest."},{"key":"B7","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/s0092-8674(01)00493-7","article-title":"A murine model of holt-oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease","volume":"106","author":"Bruneau","year":"2001","journal-title":"Cell"},{"key":"B8","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1038\/nature06801","article-title":"The developmental genetics of congenital heart disease","volume":"451","author":"Bruneau","year":"2008","journal-title":"Nature"},{"key":"B9","doi-asserted-by":"publisher","first-page":"6","DOI":"10.3390\/genes7020006","article-title":"Genetics of congenital heart defects: The NKX2-5 gene, a key player","volume":"7","author":"Chung","year":"2016","journal-title":"Genes"},{"key":"B75","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/j.ydbio.2012.11.007","article-title":"Evolutionary conservation of Nkx2.5 autoregulation in the second heart field","volume":"374","author":"Clark","year":"2013","journal-title":"Dev. Biol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1111\/J.1399-0004.2010.01523.X","article-title":"New mutations in zfpm2\/fog2 gene in tetralogy of Fallot and Double outlet right ventricle","volume":"80","author":"De Luca","year":"2010","journal-title":"Clin. Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"e000564","DOI":"10.1136\/openhrt-2016-000564","article-title":"Adults with repaired tetralogy: Low mortality but high morbidity up to middle age","volume":"4","author":"Dennis","year":"2017","journal-title":"Open Heart"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1428","DOI":"10.1210\/jc.2005-1350","article-title":"Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis","volume":"91","author":"Dentice","year":"2006","journal-title":"J. Clin. Endocrinol. Metabolism"},{"key":"B13","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1161\/CIRCULATIONAHA.110.958405","article-title":"congenital heart defects in Europe: Prevalence and perinatal mortality, 2000 to 2005","volume":"123","author":"Dolk","year":"2011","journal-title":"Circulation"},{"key":"B14","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1002\/(sici)1520-","article-title":"Combinatorial interactions regulating cardiac transcription","volume":"22","author":"Durocher","year":"1998","journal-title":"Dev. Genet."},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1186\/s43042-021-00136-1","article-title":"Screening of NKX2.5 gene in Moroccan tetralogy of Fallot (TOF) patients: Worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype","volume":"22","author":"El Bouchikhi","year":"2021","journal-title":"Egypt J. Med. Hum. Genet."},{"key":"B73","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1093\/hmg\/10.2.163","article-title":"Familial Tetralogy of Fallot caused by mutation in the jagged1 gene","volume":"10","author":"Eldadah","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"B74","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/nature03940","article-title":"Mutations in NOTCH1 cause aortic valve disease","volume":"437","author":"Garg","year":"2005","journal-title":"Nature"},{"key":"B16","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1016\/s0735-1097(98)00259-9","article-title":"Frequency of 22q11 deletions in patients with conotruncal defects","volume":"32","author":"Goldmuntz","year":"1998","journal-title":"J. Am. Coll. Cardiol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/s0095-5108(05)70067-1","article-title":"The epidemiology and genetics of congenital heart disease","volume":"28","author":"Goldmuntz","year":"2001","journal-title":"Clin. Perinatology"},{"key":"B18","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1161\/circgenetics.111.962035","article-title":"A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot","volume":"5","author":"Goodship","year":"2012","journal-title":"Circ. Cardiovasc Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1111\/j.1747-0803.2011.00573.x","article-title":"Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations","volume":"7","author":"Granados-Riveron","year":"2011","journal-title":"Congenit. Heart Dis."},{"key":"B20","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1038\/90123","article-title":"Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation","volume":"28","author":"Hiroi","year":"2001","journal-title":"Nat. Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1161\/circulationaha.118.039069","article-title":"Response by Ho et al to Letter Regarding Article, \"Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)\"","volume":"139","author":"Ho","year":"2019","journal-title":"Circulation"},{"key":"B22","doi-asserted-by":"publisher","first-page":"1890","DOI":"10.1016\/s0735-1097(02)01886-7","article-title":"The incidence of congenital heart disease","volume":"39","author":"Hoffman","year":"2002","journal-title":"J. Am. Coll. Cardiol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1262","DOI":"10.1126\/science.aac9396","article-title":"De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies","volume":"350","author":"Homsy","year":"2015","journal-title":"Science"},{"key":"B24","doi-asserted-by":"publisher","first-page":"dev174086","DOI":"10.1242\/Dev.174086","article-title":"Dynamic BAF chromatin remodeling complex subunit inclusion promotes temporally distinct gene expression programs in cardiogenesis","volume":"146","author":"Hota","year":"2019","journal-title":"Development"},{"key":"B25","doi-asserted-by":"publisher","first-page":"2671","DOI":"10.1007\/S11033-014-3126-5","article-title":"Identification of novel significant variants of zfpm2\/fog2 in non-syndromic tetralogy of Fallot and Double outlet right ventricle in A Chinese han population","volume":"41","author":"Huang","year":"2014","journal-title":"Mol. Biol. Rep."},{"key":"B77","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1016\/j.ijcard.2012.09.039","article-title":"Prevalence and spectrum of GATA5 mutations associated with congenital heart disease","volume":"165","author":"Jiang","year":"2013","journal-title":"Int. J. Cardiol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1093\/Qjmed\/Hcab317.Pmid:34904678","article-title":"Identification of a novel GATA binding protein 5 variant (c.830C&gt;T\/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot","volume":"115","author":"Jin","year":"2022","journal-title":"Qjm"},{"key":"B27","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1038\/Ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","volume":"49","author":"Jin","year":"2017","journal-title":"Nat. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1093\/Labmed\/Lmab018","article-title":"Whole-exome sequencing reveals a novel mutation of FLNA gene in an Iranian family with nonsyndromic tetralogy of Fallot","volume":"52","author":"Kalayinia","year":"2021","journal-title":"Lab. Med."},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20210565","article-title":"Interplay of vascular endothelial growth factor receptors in organ-specific vessel maintenance","volume":"219","author":"Karaman","year":"2022","journal-title":"J. Exp. Med."},{"key":"B30","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1172\/jci9860","article-title":"Loss of function and inhibitory effects of human CSX\/NKX2.5 homeoprotein mutations associated with congenital heart disease","volume":"106","author":"Kasahara","year":"2000","journal-title":"J. Clin. Invest."},{"key":"B31","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1002\/Mgg3.190","article-title":"Gata5 mutation homozygosity linked to A Double outlet right ventricle phenotype in A Lebanese patient","volume":"4","author":"Kassab","year":"2015","journal-title":"Mol. Genet. Genomic Med."},{"key":"B32","doi-asserted-by":"publisher","first-page":"914","DOI":"10.1038\/gim.2015.193","article-title":"Cardiovascular malformations caused by NOTCH1 mutations do not keep left: Data on 428 probands with left-sided CHD and their families","volume":"18","author":"Kerstjens-Frederikse","year":"2016","journal-title":"Genet. Med."},{"key":"B33","doi-asserted-by":"publisher","first-page":"13933","DOI":"10.1073\/pnas.0904744106","article-title":"GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling","volume":"106","author":"Kodo","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U.S.A"},{"key":"B34","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1161\/circresaha.115.305350","article-title":"Endocardial Notch signaling in cardiac development and disease","volume":"118","author":"Lux\u00e1n","year":"2016","journal-title":"Circ. Res."},{"key":"B76","doi-asserted-by":"publisher","first-page":"1654","DOI":"10.1101\/gad.9.13.1654","article-title":"Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5","volume":"9","author":"Lyons","year":"1995","journal-title":"Genes Dev."},{"key":"B35","doi-asserted-by":"publisher","first-page":"957","DOI":"10.3389\/Fgene.2020.00957","article-title":"Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences","volume":"11","author":"Manshaei","year":"2020","journal-title":"Front. Genet."},{"key":"B36","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1161\/cir.0b013e318265ee8a","article-title":"Neurodevelopmental outcomes in children with congenital heart disease: Evaluation and management","volume":"126","author":"Marino","year":"2012","journal-title":"Circulation"},{"key":"B37","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1161\/circresaha.118.314520","article-title":"Another Notch in the genetic puzzle of tetralogy of Fallot","volume":"124","author":"Matos-Nieves","year":"2019","journal-title":"Circ. Res."},{"key":"B38","doi-asserted-by":"publisher","first-page":"2567","DOI":"10.1161\/01.cir.0000037221.45902.69","article-title":"Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and\/or Alagille syndrome","volume":"106","author":"McElhinney","year":"2002","journal-title":"Circulation"},{"key":"B39","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1016\/j.pcad.2018.11.004","article-title":"Echocardiography in congenital heart disease","volume":"61","author":"Mcleod","year":"2018","journal-title":"Prog. Cardiovasc. Dis."},{"key":"B40","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1016\/j.athoracsur.2005.09.033","article-title":"Genetic syndromes and outcome after surgical correction of tetralogy of Fallot","volume":"81","author":"Michielon","year":"2006","journal-title":"Ann. Thorac. Surg."},{"key":"B41","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1097\/CRD.0000000000000170","article-title":"Genetic origins of tetralogy of Fallot","volume":"26","author":"Morgenthau","year":"2018","journal-title":"Cardiology in review"},{"key":"B42","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1016\/0003-4975(96)00539-5","article-title":"Revascularization of the bronchial arteries in lung transplantation: An overview","volume":"62","author":"Norgaard","year":"1996","journal-title":"Ann. Thorac. Surg."},{"key":"B43","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/s0735-1097(00)00755-5","article-title":"Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis","volume":"36","author":"Oechslin","year":"2000","journal-title":"J. Am. Coll. Cardiol."},{"key":"B44","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/nrm1911","article-title":"VEGF receptor signalling ? In control of vascular function","volume":"7","author":"Olsson","year":"2006","journal-title":"Nat. Rev. Mol. Cell Biol"},{"key":"B45","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1161\/Circresaha.118.313250","article-title":"Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot","volume":"124","author":"Page","year":"2019","journal-title":"Circ. Res."},{"key":"B46","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1186\/1471-2156-14-57","article-title":"Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot","volume":"14","author":"Palomino Doza","year":"2013","journal-title":"BMC Genet."},{"key":"B47","doi-asserted-by":"publisher","first-page":"278","DOI":"10.3389\/fpsyg.2014.00278","article-title":"From the heart to the mind: Cardiac vagal tone modulates top-down and bottom-up visual perception and attention to emotional stimuli","volume":"5","author":"Park","year":"2014","journal-title":"Front. Psychol."},{"key":"B48","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1097\/Crd.0000000000000293","article-title":"Timing of repair in tetralogy of Fallot: Effects on outcomes and myocardial health","volume":"29","author":"Peck","year":"2021","journal-title":"Cardiol. Rev."},{"key":"B49","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1002\/2211-5463.13044","article-title":"A loss\u2010of\u2010function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA\/VSD) and tetralogy of Fallot (TOF)","volume":"11","author":"Peng","year":"2021","journal-title":"Febs Open Bio"},{"key":"B50","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1007\/S11886-022-01638-Z","article-title":"Burden and impact of arrhythmias in repaired tetralogy of Fallot","volume":"24","author":"Pinsker","year":"2022","journal-title":"Curr. Cardiol. Rep."},{"key":"B51","doi-asserted-by":"publisher","first-page":"270","DOI":"10.4081\/jphr.2014.270.PMID:25343136","article-title":"Epidemiology of cardiovascular malformations among newborns in monchegorsk (North-West Russia): A register-based study","volume":"3","author":"Postoev","year":"2014","journal-title":"J. Public Health Res."},{"key":"B52","doi-asserted-by":"publisher","first-page":"1328","DOI":"10.1242\/dev.143719","article-title":"FGF signaling enforces cardiac chamber identity in the developing ventricle","volume":"144","author":"Pradhan","year":"2017","journal-title":"Development"},{"key":"B53","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1186\/S12967-017-1173-0","article-title":"Multiple gene variations contributed to congenital heart disease via gata family transcriptional regulation","volume":"15","author":"Qian","year":"2017","journal-title":"J. Transl. Med."},{"key":"B54","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1038\/S41436-018-0260-9","article-title":"Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot","volume":"21","author":"Reuter","year":"2019","journal-title":"Genet. Med."},{"key":"B55","doi-asserted-by":"publisher","first-page":"103","DOI":"10.14715\/Cmb\/2018.64.4.17","article-title":"Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of tetralogy of Fallot","volume":"64","author":"Safari-Arababadi","year":"2018","journal-title":"Cell Mol. Biol. (Noisy-le-grand)"},{"key":"B56","article-title":"Cardiac surgery","volume-title":"Treasure island (FL)","author":"Senst","year":"2022"},{"key":"B57","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.3892\/Ijmm.2014.1700","article-title":"Gata5 loss-of-function mutations associated with congenital bicuspid aortic valve","volume":"33","author":"Shi","year":"2014","journal-title":"Int. J. Of Mol. Med."},{"key":"B58","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1136\/hrt.2005.061143","article-title":"Tetralogy of Fallot: From fetus to adult","volume":"92","author":"Shinebourne","year":"2006","journal-title":"Heart"},{"key":"B59","doi-asserted-by":"publisher","first-page":"1060","DOI":"10.1038\/ng.3627","article-title":"Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing","volume":"48","author":"Sifrim","year":"2016","journal-title":"Nat. Genet."},{"key":"B60","doi-asserted-by":"publisher","first-page":"1952","DOI":"10.1038\/S41436-021-01212-Y","article-title":"Rare variants in kdr, encoding vegf receptor 2, are associated with tetralogy of Fallot","volume":"23","author":"\u0160kori\u0107-Milosavljevi\u0107","year":"2021","journal-title":"Genet. Med."},{"key":"B61","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1016\/j.ajhg.2014.07.011","article-title":"Mutations in NOTCH1 cause adams-oliver syndrome","volume":"95","author":"Stittrich","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"B62","doi-asserted-by":"publisher","first-page":"101249","DOI":"10.1016\/J.Eclinm.2021.101249","article-title":"Global, regional, and national time trends in mortality for congenital heart disease, 1990-2019: An age-period-cohort analysis for the Global Burden of Disease 2019 study","volume":"43","author":"Su","year":"2022","journal-title":"Eclinicalmedicine"},{"key":"B63","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/S12920-022-01185-0","article-title":"Expanding the phenotype Associated with Smarcc2 variants: A fetus with tetralogy of Fallot","volume":"15","author":"Sun","year":"2022","journal-title":"BMC Med. Genomics"},{"key":"B64","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/bf00400671","article-title":"High glucose concentration inhibits migration of rat cranial neural crest cells in vitro","volume":"39","author":"Suzuki","year":"1996","journal-title":"Diabetologia"},{"key":"B65","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1111\/J.1399-0004.2011.01787.X","article-title":"Novelzfpm2\/Fog2variants in patients with Double outlet right ventricle","volume":"82","author":"Tan","year":"2011","journal-title":"Clin. Genet."},{"key":"B66","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1136\/jmg.2007.052183","article-title":"GATA4 sequence variants in patients with congenital heart disease","volume":"44","author":"Tomita-Mitchell","year":"2007","journal-title":"J. Med. Genet."},{"key":"B67","doi-asserted-by":"publisher","first-page":"E95453","DOI":"10.1371\/Journal.Pone.0095453","article-title":"Functionally significant, rare transcription factor variants in tetralogy of Fallot","volume":"9","author":"T\u00f6pf","year":"2014","journal-title":"Plos One"},{"key":"B68","doi-asserted-by":"publisher","first-page":"34","DOI":"10.7150\/Ijms.5270","article-title":"Gata5 loss-of-function mutations underlie tetralogy of Fallot","volume":"10","author":"Wei","year":"2013","journal-title":"Int. J. Med. Sci."},{"key":"B69","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/J.Bjae.2019.07.003","article-title":"Tetralogy of Fallot","volume":"19","author":"Wilson","year":"2019","journal-title":"BJA Educ."},{"key":"B70","doi-asserted-by":"publisher","first-page":"H1649","DOI":"10.1152\/Ajpheart.00235.2018","article-title":"Human fetal hearts with tetralogy of Fallot have altered fluid dynamics and forces","volume":"315","author":"Wiputra","year":"2018","journal-title":"Am. J. Of Physiology-Heart Circulatory Physiology"},{"key":"B71","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/nature12141","article-title":"De novo mutations in histone-modifying genes in congenital heart disease","volume":"498","author":"Zaidi","year":"2013","journal-title":"Nature"},{"key":"B72","doi-asserted-by":"publisher","first-page":"E102379","DOI":"10.1371\/Journal.Pone.0102379","article-title":"Novel missense variants of zfpm2\/fog2 identified in conotruncal heart defect patients do not impair interaction with Gata4","volume":"9","author":"Zhang","year":"2014","journal-title":"Plos One"}],"container-title":["Frontiers in Physiology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphys.2022.1012665\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T09:13:19Z","timestamp":1665047599000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphys.2022.1012665\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,6]]},"references-count":77,"alternative-id":["10.3389\/fphys.2022.1012665"],"URL":"https:\/\/doi.org\/10.3389\/fphys.2022.1012665","relation":{},"ISSN":["1664-042X"],"issn-type":[{"value":"1664-042X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,6]]},"article-number":"1012665"}}