{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T09:01:49Z","timestamp":1785402109986,"version":"3.56.0"},"reference-count":8,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T00:00:00Z","timestamp":1781049600000},"content-version":"unspecified","delay-in-days":40,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present the first case of\n                    <jats:italic>CTNND1<\/jats:italic>\n                    variant with a prenatal clinical phenotype of total anomalous pulmonary venous connection. The genetic analysis identified a heterozygous pathogenic variant NM_001085458.2: c.2098C&gt;T (p.R700*) in the\n                    <jats:italic>CTNND1<\/jats:italic>\n                    gene of the fetus. This case expands the phenotypic spectrum of\n                    <jats:italic>CTNND1<\/jats:italic>\n                    gene, provides a novel clinical reference for prenatal diagnosis, and suggests that the\n                    <jats:italic>CTNND1<\/jats:italic>\n                    gene plays a crucial role in early cardiac development.\n                  <\/jats:p>","DOI":"10.1017\/s1047951126113171","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T07:45:01Z","timestamp":1781077501000},"page":"1074-1076","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["A novel\n                    <i>CTNND1<\/i>\n                    genotype-phenotype association: total anomalous pulmonary venous connection in a fetus"],"prefix":"10.1017","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0692-9373","authenticated-orcid":false,"given":"Minjie","family":"Sun","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02h2j1586","id-type":"ROR","asserted-by":"publisher"}],"name":"Beijing Anzhen Hospital Affiliated to Capital Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hairui","family":"Sun","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02h2j1586","id-type":"ROR","asserted-by":"publisher"}],"name":"Beijing Anzhen Hospital Affiliated to Capital Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihua","family":"He","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02h2j1586","id-type":"ROR","asserted-by":"publisher"}],"name":"Beijing Anzhen Hospital Affiliated to Capital Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2026,6,10]]},"reference":[{"key":"S1047951126113171_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.01.017"},{"key":"S1047951126113171_ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2005.04.010"},{"key":"S1047951126113171_ref7","doi-asserted-by":"publisher","DOI":"10.1002\/uog.21883"},{"key":"S1047951126113171_ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63921"},{"key":"S1047951126113171_ref3","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200605022"},{"key":"S1047951126113171_ref6","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1180381"},{"key":"S1047951126113171_ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa050"},{"key":"S1047951126113171_ref8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.11"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951126113171","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T11:35:17Z","timestamp":1782128117000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951126113171\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["S1047951126113171"],"URL":"https:\/\/doi.org\/10.1017\/s1047951126113171","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"\u00a9 The Author(s), 2026. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}