{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T12:24:54Z","timestamp":1766492694799,"version":"3.41.2"},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Diabetes Invest"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>A 33\u2010year\u2010old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia. He also exhibited characteristic facies, including a triangular face with a small chin, deeply set eyes, and low\u2010set ears. He was born with intrauterine growth restriction and developed diabetes during adolescence, requiring high\u2010dose insulin therapy. For 19\u2009years, an accurate diagnosis was not made. We performed direct sequencing of the insulin receptor gene and exons 11\u201316 of the <jats:italic>PIK3R1<\/jats:italic> gene, identifying a c.1957A&gt;T mutation (p.Lys653*) in the <jats:italic>PIK3R1<\/jats:italic> gene, which confirmed a diagnosis of SHORT syndrome. Suspecting SHORT syndrome in individuals who exhibit some of its typical symptoms may facilitate an accurate diagnosis and enable effective management of this condition.<\/jats:p>","DOI":"10.1111\/jdi.70088","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T03:41:04Z","timestamp":1748317264000},"page":"1561-1565","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A case of <scp>SHORT<\/scp> syndrome with a novel genetic mutation diagnosed 19\u2009years after the onset of diabetes"],"prefix":"10.1111","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3723-5972","authenticated-orcid":false,"given":"Kumiko","family":"Tajima","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Japan Community Health Care Organization Gunma Central Hospital  Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3035-4155","authenticated-orcid":false,"given":"Yushi","family":"Hirota","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomofumi","family":"Takayoshi","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0432-4366","authenticated-orcid":false,"given":"Wataru","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,27]]},"reference":[{"volume-title":"GeneReviews\u00ae [Internet]","year":"2014","author":"Innes AM","key":"e_1_2_7_2_1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.019"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.023"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.005"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-51"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.88766"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0281-6"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-017-0362-z"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01146-3"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.13171"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2019.11.013"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.70062"}],"container-title":["Journal of Diabetes Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdi.70088","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T12:50:28Z","timestamp":1754052628000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdi.70088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,27]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1111\/jdi.70088"],"URL":"https:\/\/doi.org\/10.1111\/jdi.70088","archive":["Portico"],"relation":{},"ISSN":["2040-1116","2040-1124"],"issn-type":[{"type":"print","value":"2040-1116"},{"type":"electronic","value":"2040-1124"}],"subject":[],"published":{"date-parts":[[2025,5,27]]},"assertion":[{"value":"2025-01-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}