{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:14:34Z","timestamp":1778642074094,"version":"3.51.4"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T00:00:00Z","timestamp":1768435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T00:00:00Z","timestamp":1768435200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100007664","name":"Manpei Suzuki Diabetes Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007664","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2025A\u20102"],"award-info":[{"award-number":["2025A\u20102"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    A Japanese boy carried a paternally inherited single\u2010nucleotide deletion in\n                    <jats:italic>PTF1A<\/jats:italic>\n                    exon 1 (c.775delC) and a maternally inherited nucleotide substitution in the distal enhancer region (g.23508356T&gt;G). Both variants were hitherto unreported. The patient exhibited transient anemia in addition to typical clinical features of pancreatic hypoplasia, but no neurodevelopmental abnormalities. These results highlight the clinical importance and broad mutation spectrum of\n                    <jats:italic>PTF1A<\/jats:italic>\n                    variants as a cause of pancreatic hypoplasia. In addition, our data imply that phenotypes of\n                    <jats:italic>PTF1A<\/jats:italic>\n                    abnormalities are variable and include etiology\u2010unknown transient anemia.\n                  <\/jats:p>","DOI":"10.1111\/cge.70134","type":"journal-article","created":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T09:06:30Z","timestamp":1768467990000},"page":"1088-1089","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Compound Heterozygosity of\n                    <i>PTF1A<\/i>\n                    Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia"],"prefix":"10.1111","volume":"109","author":[{"given":"Michihiko","family":"Aramaki","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute of Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hibiki","family":"Doi","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute of Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Kato\u2010Fukui","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute of Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute of Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2505-5932","authenticated-orcid":false,"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute of Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,15]]},"reference":[{"key":"e_1_2_1_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1475"},{"key":"e_1_2_1_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2826"},{"key":"e_1_2_1_6_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa613"},{"key":"e_1_2_1_6_5_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.4494"},{"key":"e_1_2_1_6_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000435782"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70134","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70134","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70134","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:47:15Z","timestamp":1778640435000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,15]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1111\/cge.70134"],"URL":"https:\/\/doi.org\/10.1111\/cge.70134","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,15]]},"assertion":[{"value":"2025-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}