{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T02:51:50Z","timestamp":1767495110107,"version":"3.46.0"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,10,11]],"date-time":"2018-10-11T00:00:00Z","timestamp":1539216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP17ek0109297","JP18ek1009278","JP18ek0109301"],"award-info":[{"award-number":["JP17ek0109297","JP18ek1009278","JP18ek0109301"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>\n                    We identified a heterozygous p.(R284H) variant of\n                    <jats:italic>GATA4<\/jats:italic>\n                    in a Japanese family with atrial septal defect, including boys with apparently normal male sex development. The findings, together with the previous data, imply that\n                    <jats:italic>GATA4<\/jats:italic>\n                    variants primarily cause congenital heart disease and rarely result in 46,XY disorder of sex development.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.1851","type":"journal-article","created":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T01:31:03Z","timestamp":1539307863000},"page":"2229-2233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>GATA4<\/i>\n                    variant identified by whole\u2010exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development"],"prefix":"10.1002","volume":"6","author":[{"given":"Daisuke","family":"Shimizu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu 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