{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:35:28Z","timestamp":1777937728154,"version":"3.51.4"},"reference-count":7,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T00:00:00Z","timestamp":1739404800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>\n                    Hypoplastic right heart syndrome (HRHS) is an uncommon congenital cardiac defect, characterized by variable underdevelopment of the right-sided heart structures. We report on a case of HRHS in a 25-week female fetus. Prenatal karyotype was normal. Autopsy performed following pregnancy termination demonstrated characteristic craniofacial dysmorphism and complex congenital heart disease encompassing severe hypoplasia of the right ventricle, main pulmonary artery and tricuspid valve, ostium secundum atrial septal defect, and ductus arteriosus agenesis. Macroscopic and histologic examinations of the brain and organs were unremarkable. Post-mortem array CGH didn\u2019t detect any unbalanced chromosomal abnormalities. Exome and Sanger sequencing revealed a novel de novo heterozygous missense variant in\n                    <jats:italic>GATA6<\/jats:italic>\n                    (NM_005257.6:c.1385A&gt;G) which is located in the hotspot exon 4 encoding the highly conserved C-terminal zinc finger domain. This report ascertains that GATA6 haploinsufficiency may cause a cardiocraniofacial syndrome consisting of distinctive craniofacial dysmorphism and HRHS.\n                  <\/jats:p>","DOI":"10.1177\/10935266251319571","type":"journal-article","created":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T07:46:17Z","timestamp":1739432777000},"page":"220-224","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in\n                    <i>GATA6<\/i>\n                    : A Fetal Case Report"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3930-0011","authenticated-orcid":false,"given":"Sihem","family":"Darouich","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Tunis, Universit\u00e9 de Tunis El Manar, Tunis, Tunisia"},{"name":"Unit\u00e9 de Pathologie F\u0153tale et Placentaire, CHU Habib Bougatfa, Bizerte, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Darouich","sequence":"additional","affiliation":[{"name":"Institut sup\u00e9rieur des Sciences Humaines de Tunis, Universit\u00e9 de Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorsaf","family":"Gtari","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Anatomie et Cytologie Pathologiques, H\u00f4pital Menzel Bourguiba, Menzel Bourguiba, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Bellamine","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Anatomie et Cytologie Pathologiques, H\u00f4pital Menzel Bourguiba, Menzel Bourguiba, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,2,13]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23586"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI27363"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61294"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-023-02811-y"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.202895"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.04.003"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.diff.2012.04.005"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251319571","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266251319571","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251319571","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:11:25Z","timestamp":1777695085000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266251319571"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,13]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1177\/10935266251319571"],"URL":"https:\/\/doi.org\/10.1177\/10935266251319571","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,13]]}}}