{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Automated"},"PMID":{"@attributes":{"Version":"1"},"@text":"35777348"},"DateCompleted":{"Year":"2022","Month":"08","Day":"16"},"DateRevised":{"Year":"2025","Month":"07","Day":"28"},"Article":{"@attributes":{"PubModel":"Print-Electronic"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"1879-0380"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"75","PubDate":{"Year":"2022","Month":"Aug"}},"Title":"Current opinion in genetics & development","ISOAbbreviation":"Curr Opin Genet Dev"},"ArticleTitle":"The genetic landscape of cardiovascular left-right patterning defects.","Pagination":{"StartPage":"101937","MedlinePgn":"101937"},"ELocationID":[{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.1016\/j.gde.2022.101937"},{"@attributes":{"EIdType":"pii","ValidYN":"Y"},"@text":"S0959-437X(22)00046-6"}],"Abstract":{"AbstractText":["Heterotaxy is a disorder with complex congenital heart defects and diverse left-right (LR) patterning defects in other organ systems. Despite evidence suggesting a strong genetic component in heterotaxy, the majority of molecular causes remain unknown. Established genes often involve a ciliated, embryonic structure known as the left-right organizer (LRO). Herein, we focus on genetic discoveries in heterotaxy in the past two years. These include complex genetic architecture, novel mechanisms regulating cilia formation, and evidence for conservation of LR patterning between distant species. We feature new insights regarding established LR signaling pathways, bring attention to heterotaxy candidate genes in novel pathways, and provide an extensive overview of genes previously associated with laterality phenotypes in humans."],"CopyrightInformation":"Copyright \u00a9 2022 Elsevier Ltd. All rights reserved."},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Wells","ForeName":"John R","Initials":"JR","AffiliationInfo":[{"Affiliation":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Padua","ForeName":"Maria B","Initials":"MB","AffiliationInfo":[{"Affiliation":"Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Ware","ForeName":"Stephanie M","Initials":"SM","AffiliationInfo":[{"Affiliation":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA. Electronic address: stware@iu.edu."}]}]},"Language":["eng"],"GrantList":{"@attributes":{"CompleteYN":"Y"},"Grant":[{"GrantID":"P01 HL134599","Acronym":"HL","Agency":"NHLBI NIH HHS","Country":"United States"}]},"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"},{"@attributes":{"UI":"D016454"},"@text":"Review"},{"@attributes":{"UI":"D052061"},"@text":"Research Support, N.I.H., Extramural"},{"@attributes":{"UI":"D013485"},"@text":"Research Support, Non-U.S. Gov't"}]},"ArticleDate":[{"@attributes":{"DateType":"Electronic"},"Year":"2022","Month":"06","Day":"28"}]},"MedlineJournalInfo":{"Country":"England","MedlineTA":"Curr Opin Genet Dev","NlmUniqueID":"9111375","ISSNLinking":"0959-437X"},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D019521","MajorTopicYN":"Y"},"@text":"Body Patterning"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D002923","MajorTopicYN":"N"},"@text":"Cilia"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D059446","MajorTopicYN":"Y"},"@text":"Heterotaxy Syndrome"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D006801","MajorTopicYN":"N"},"@text":"Humans"}},{"DescriptorName":{"@attributes":{"UI":"D010641","MajorTopicYN":"N"},"@text":"Phenotype"}},{"DescriptorName":{"@attributes":{"UI":"D015398","MajorTopicYN":"N"},"@text":"Signal Transduction"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]}]},"KeywordList":[{"@attributes":{"Owner":"NOTNLM"},"Keyword":[{"@attributes":{"MajorTopicYN":"N"},"@text":"cilia"},{"@attributes":{"MajorTopicYN":"N"},"@text":"congenital heart defect"},{"@attributes":{"MajorTopicYN":"N"},"@text":"heterotaxy"},{"@attributes":{"MajorTopicYN":"N"},"@text":"laterality"},{"@attributes":{"MajorTopicYN":"N"},"@text":"mitochondria"}]}],"CoiStatement":"Conflict of interest statement. The authors declare the following financial interests\/personal relationships which may be considered as potential competing interests: Stephanie M. Ware reports financial support was provided by National Institutes of Health. Stephanie M. Ware reports a relationship with Metis Genetics, LLC that includes: consulting or advisory."},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"received"},"Year":"2022","Month":"2","Day":"5"},{"@attributes":{"PubStatus":"revised"},"Year":"2022","Month":"4","Day":"11"},{"@attributes":{"PubStatus":"accepted"},"Year":"2022","Month":"5","Day":"19"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2022","Month":"7","Day":"2","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"medline"},"Year":"2022","Month":"8","Day":"17","Hour":"6","Minute":"0"},{"@attributes":{"PubStatus":"entrez"},"Year":"2022","Month":"7","Day":"1","Hour":"18","Minute":"33"},{"@attributes":{"PubStatus":"pmc-release"},"Year":"2023","Month":"12","Day":"6"}]},"PublicationStatus":"ppublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"35777348"},{"@attributes":{"IdType":"mid"},"@text":"NIHMS1944088"},{"@attributes":{"IdType":"pmc"},"@text":"PMC10698510"},{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.gde.2022.101937"},{"@attributes":{"IdType":"pii"},"@text":"S0959-437X(22)00046-6"}]},"ReferenceList":[{"Reference":[{"Citation":"\u00d8yen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PKA, Melbye M: Recurrence of congenital heart defects in families. Circulation 2009, 120:295\u2013301.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"19597048"}]}},{"Citation":"Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, et al. : Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association. Circulation 2018, 138:e653\u2013e711.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC6555769"},{"@attributes":{"IdType":"pubmed"},"@text":"30571578"}]}},{"Citation":"Lin AE, Krikov S, Riehle-Colarusso T, Fr\u00edas JL, Belmont J, Anderka M, Geva T, Getz KD, Botto LD: Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet Part A 2014, 164A:2581\u20132591.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC4462240"},{"@attributes":{"IdType":"pubmed"},"@text":"25099286"}]}},{"Citation":"Piano Mortari E, Baban A, Cantarutti N, Bocci C, Adorisio R, Carsetti R: Heterotaxy syndrome with and without spleen: different infection risk and management. J Allergy Clin Immunol 2017, 139:1981\u20131984.e1981.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"27864025"}]}},{"Citation":"Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW: Identification and functional analysis of <i>ZIC3<\/i> mutations in heterotaxy and related congenital heart defects. Am J Hum Genet\n2004, 74:93\u2013105.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC1181916"},{"@attributes":{"IdType":"pubmed"},"@text":"14681828"}]}},{"Citation":"Little RB, Norris DP: Right, left and cilia: how asymmetry is established. Semin Cell Dev Biol 2021, 110:11\u201318.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"32571625"}]}},{"Citation":"Nonaka S, Shiratori H, Saijoh Y, Hamada H: Determination of left\u2013right patterning of the mouse embryo by artificial nodal flow. Nature 2002, 418:96\u201399.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"12097914"}]}},{"Citation":"Li Y, Yagi H, Onuoha EO, Damerla RR, Francis R, Furutani Y, Tariq M, King SM, Hendricks G, Cui C, et al. : <i>DNAH6<\/i> and its interactions with PCD genes in heterotaxy and primary ciliary dyskinesia. PLoS Genet\n2016, 12:e1005821.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC4769270"},{"@attributes":{"IdType":"pubmed"},"@text":"26918822"}]}},{"Citation":"Tate G: Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of <i>DNAH9<\/i> and <i>RSPH1<\/i> genes in a Japanese fetus with situs viscerum inversus. Med Mol Morphol\n2021, 54:275\u2013280.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"34008076"}]}},{"Citation":"Liu S, Chen W, Zhan Y, Li S, Ma X, Ma D, Sheng W, Huang G: <i>DNAH11<\/i> variants and its association with congenital heart disease and heterotaxy syndrome. Sci Rep\n2019, 9:6683.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC6491566"},{"@attributes":{"IdType":"pubmed"},"@text":"31040315"}]}},{"Citation":"Axelrod JD: Planar cell polarity signaling in the development of left\u2013right asymmetry. Curr Opin Cell Biol 2020, 62:61\u201369.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC9258637"},{"@attributes":{"IdType":"pubmed"},"@text":"31654871"}]}},{"Citation":"Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM: <i>SHROOM3<\/i> is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol\n2011, 12:R91.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC3308054"},{"@attributes":{"IdType":"pubmed"},"@text":"21936905"}]}},{"Citation":"Bellchambers HM, Ware SM: <i>ZIC3<\/i> in heterotaxy. Adv Exp Med Biol\n2018, 1046:301\u2013327.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC8445495"},{"@attributes":{"IdType":"pubmed"},"@text":"29442328"}]}},{"Citation":"Hildebrand JD, Soriano P: Shroom, a PDZ domain\u2013containing actin-binding protein, is required for neural tube morphogenesis in mice. Cell 1999, 99:485\u2013497.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"10589677"}]}},{"Citation":"McGreevy EM, Vijayraghavan D, Davidson LA, Hildebrand JD: Shroom3 functions downstream of planar cell polarity to regulate myosin II distribution and cellular organization during neural tube closure. Biol Open 2015, 4:186\u2013196.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC4365487"},{"@attributes":{"IdType":"pubmed"},"@text":"25596276"}]}},{"Citation":"Durbin MD, O\u2019Kane J, Lorentz S, Firulli AB, Ware SM: SHROOM3 is downstream of the planar cell polarity pathway and loss-of-function results in congenital heart defects. Dev Biol 2020, 464:124\u2013136.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC8257046"},{"@attributes":{"IdType":"pubmed"},"@text":"32511952"}]}},{"Citation":"Cast AE, Gao C, Amack JD, Ware SM: An essential and highly conserved role for Zic3 in left\u2013right patterning, gastrulation and convergent extension morphogenesis. Dev Biol 2012, 364:22\u201331.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC3294024"},{"@attributes":{"IdType":"pubmed"},"@text":"22285814"}]}},{"Citation":"Bellchambers HM, Ware SM: <i>Loss of Zic3<\/i> impairs planar cell polarity leading to abnormal left\u2013right signaling, heart defects and neural tube defects. Hum Mol Genet (24) 2021, 30:2402\u20132415\nhttps:\/\/academic.oup.com\/hmg\/article\/30\/24\/2402\/6323447?login=true.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC8643499"},{"@attributes":{"IdType":"pubmed"},"@text":"34274973"}]}},{"Citation":"Alsafwani RS, Nasser KK, Shinawi T, Banaganapalli B, ElSokary HA, Zaher ZF, Shaik NA, Abdelmohsen G, Al-Aama JY, Shapiro AJ, et al. : <i>Novel MYO1D<\/i> missense variant identified through whole exome sequencing and computational biology analysis expands the spectrum of causal genes of laterality defects. Front Med\n2021, 8:724826, https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2021.724826\/full.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.3389\/fmed.2021.724826\/full"},{"@attributes":{"IdType":"pmc"},"@text":"PMC8473696"},{"@attributes":{"IdType":"pubmed"},"@text":"34589502"}]}},{"Citation":"Hozumi S, Maeda R, Taniguchi K, Kanai M, Shirakabe S, Sasamura T, Sp\u00e9der P, Noselli S, Aigaki T, Murakami R, et al. : An unconventional <i>myosin<\/i> in <i>Drosophila<\/i> reverses the default handedness in visceral organs. Nature\n2006, 440:798\u2013802.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"16598258"}]}},{"Citation":"Sp\u00e9der P, \u00c1d\u00e1m G, Noselli S: Type ID unconventional myosin controls left\u2013right asymmetry in <i>Drosophila<\/i>. Nature\n2006, 440:803\u2013807.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"16598259"}]}},{"Citation":"Saydmohammed M, Yagi H, Calderon M, Clark MJ, Feinstein T, Sun M, Stolz DB, Watkins SC, Amack JD, Lo CW, et al. : Vertebrate <i>myosin 1d<\/i> regulates left\u2013right organizer morphogenesis and laterality. Nat Commun\n2018, 9:3381, https:\/\/www.nature.com\/articles\/s41467-018-05866-2.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC6107537"},{"@attributes":{"IdType":"pubmed"},"@text":"30139971"}]}},{"Citation":"Tingler M, Kurz S, Maerker M, Ott T, Fuhl F, Schweickert A, Leblanc-Straceski JM, Noselli S, Blum M: A conserved role of the unconventional myosin 1d in laterality determination. Curr Biol\n2018, 28:810\u2013816.e3, https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0960982218301088?via%3Dihub.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"29478852"}]}},{"Citation":"Juan T, G\u00e9minard C, Coutelis JB, Cerezo D, Pol\u00e8s S, Noselli S, F\u00fcrthauer M: Myosin1D is an evolutionarily conserved regulator of animal left\u2013right asymmetry. Nat Commun 2018, 9:1942.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC5955935"},{"@attributes":{"IdType":"pubmed"},"@text":"29769531"}]}},{"Citation":"Cristo F, In\u00e1cio JM, De Almeida S, Mendes P, Martins DS, Maio J, Anjos R, Belo JA: Functional study of DAND5 variant in patients with congenital heart disease and laterality defects. BMC Med Genet 2017, 18:77.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC5525210"},{"@attributes":{"IdType":"pubmed"},"@text":"28738792"}]}},{"Citation":"Marek-Yagel D, Bolkier Y, Barel O, Vardi A, Mishali D, Katz U, Salem Y, Abudi S, Nayshool O, Kol N, et al. : A founder truncating variant in <i>GDF1<\/i> causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds. Am J Med Genet Part A\n2020, 182:987\u2013993.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"32144877"}]}},{"Citation":"Li AH, Hanchard NA, Azamian M, D\u2019Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, et al. : Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet 2019, 27:563\u2013573.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC6460585"},{"@attributes":{"IdType":"pubmed"},"@text":"30622330"}]}},{"Citation":"Chen W, Zhang Y, Yang S, Shi Z, Zeng W, Lu Z, Zhou X: Bi-allelic mutations in <i>NUP205<\/i> and <i>NUP210<\/i> are associated with abnormal cardiac left\u2013right patterning. Circ: Genomic Precis Med\n2019, 12:e002492, https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCGEN.119.002492.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1161\/CIRCGEN.119.002492"},{"@attributes":{"IdType":"pubmed"},"@text":"31306055"}]}},{"Citation":"del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, Reza N, Bewersdorf J, Lusk CP, Khokha MK: Congenital heart disease genetics uncovers context-dependent organization and function of nucleoporins at cilia. Dev Cell 2016, 38:478\u2013492.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC5021619"},{"@attributes":{"IdType":"pubmed"},"@text":"27593162"}]}},{"Citation":"Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M: Rare copy number variations in congenital heart disease patients identify unique genes in left\u2013right patterning. Proc Natl Acad Sci USA 2011, 108:2915\u20132920.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC3041108"},{"@attributes":{"IdType":"pubmed"},"@text":"21282601"}]}},{"Citation":"Zhang Y, Chen W, Zeng W, Lu Z, Zhou X: Biallelic loss of function NEK3 mutations deacetylate \u03b1-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left\u2013right patterning. Cell Death Dis\n2020, 11:1005, https:\/\/www.nature.com\/articles\/s41419-020-03214-1.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC7684299"},{"@attributes":{"IdType":"pubmed"},"@text":"33230144"}]}},{"Citation":"Manning DK, Sergeev M, van Heesbeen RG, Wong MD, Oh JH, Liu Y, Henkelman RM, Drummond I, Shah JV, Beier DR: Loss of the ciliary kinase <i>Nek8<\/i> causes left\u2013right asymmetry defects. J Am Soc Nephrol\n2013, 24:100\u2013112, https:\/\/jasn.asnjournals.org\/content\/24\/1\/100.long.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC3537214"},{"@attributes":{"IdType":"pubmed"},"@text":"23274954"}]}},{"Citation":"Endicott SJ, Basu B, Khokha M, Brueckner M: The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left\u2013right asymmetry. Development 2015, 142:4068\u20134079.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC4712839"},{"@attributes":{"IdType":"pubmed"},"@text":"26493400"}]}},{"Citation":"Tinker SC, Gilboa SM, Moore CA, Waller DK, Simeone RM, Kim SY, Jamieson DJ, Botto LD, Reefhuis J: Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997\u20132011. Am J Obstet Gynecol\n2020, 222:176.e1\u2013176.e11, https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002937819310300?via%3Dihub.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC7186569"},{"@attributes":{"IdType":"pubmed"},"@text":"31454511"}]}},{"Citation":"Zhang H, Su B, Liu X, Xiao H, Ding J, Yao Y: Mutations in <i>TTC21B<\/i> cause different phenotypes in two childhood cases in China. Nephrology\n2018, 23:371\u2013376, https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.13008.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1111\/nep.13008"},{"@attributes":{"IdType":"pubmed"},"@text":"28124483"}]}},{"Citation":"Strong A, Li D, Mentch F, Hakonarson H: A novel heterotaxy gene: expansion of the phenotype of <i>TTC21B-spectrum<\/i> disease. Am J Med Genet Part A\n2021, 185:1266\u20131269, https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62093.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1002\/ajmg.a.62093"},{"@attributes":{"IdType":"pmc"},"@text":"PMC9290470"},{"@attributes":{"IdType":"pubmed"},"@text":"33547761"}]}},{"Citation":"Cowan JR, Tariq M, Shaw C, Rao M, Belmont JW, Lalani SR, Smolarek TA, Ware SM: Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Phil Trans R Soc B 2016, 371:20150406.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC5104505"},{"@attributes":{"IdType":"pubmed"},"@text":"27821535"}]}},{"Citation":"Tang T, Li L, Tang J, Li Y, Lin WY, Martin F, Grant D, Solloway M, Parker L, Ye W, et al. : A mouse knockout library for secreted and transmembrane proteins. Nat Biotechnol 2010, 28:749\u2013755.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"20562862"}]}},{"Citation":"Ma ACH, Mak CCY, Yeung KS, Pei SLC, Ying D, Yu MHC, Hasan KMM, Chen X, Chow PC, Cheung YF, et al. : Monoallelic mutations in <i>CC2D1A<\/i> suggest a novel role in human heterotaxy and ciliary dysfunction. Circ: Genomic Precis Med\n2020, 13:e003000.","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pmc"},"@text":"PMC7748040"},{"@attributes":{"IdType":"pubmed"},"@text":"33196317"}]}}]}]}}}