{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T12:32:17Z","timestamp":1766493137039,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T00:00:00Z","timestamp":1617753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Diabetes Invest"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>SHORT syndrome (short stature, hyperextensibility, ocular depression [deeply set eyes], Rieger anomaly and teething delay) is very rare, with a few cases reported in the literature. We report a case of SHORT syndrome with a novel <jats:italic>PIK3R1<\/jats:italic> mutation (c.2008delT) and complicated with severe insulin resistance. Although no treatment guidelines are available to relieve insulin resistance in SHORT syndrome, our treatment plans, including lifestyle intervention combined with metformin and pioglitazone, were carried out for this patient. After the intervention, insulin resistance and hyperinsulinemia in this patient were significantly decreased during a 6\u2010month follow up, which showed the effect of our therapeutic strategies.<\/jats:p>","DOI":"10.1111\/jdi.13549","type":"journal-article","created":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T12:06:29Z","timestamp":1616241989000},"page":"1919-1922","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel <i>PIK3R1<\/i> mutation of SHORT syndrome: A case report with a 6\u2010month follow up"],"prefix":"10.1111","volume":"12","author":[{"given":"Xiaofei","family":"Yin","sequence":"first","affiliation":[{"name":"Department of Endocrinology Cheeloo College of Medicine Qilu Hospital Shandong University Jinan China"},{"name":"Institute of Endocrine and Metabolic Diseases Shandong University Jinan China"},{"name":"Key Laboratory of Endocrine and Metabolic Diseases Shandong Province Medicine &amp; Health Jinan China"},{"name":"Jinan Clinical Research Center for Endocrine and Metabolic Diseases Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jidong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Cheeloo College of Medicine Qilu Hospital Shandong University Jinan China"},{"name":"Institute of Endocrine and Metabolic Diseases Shandong University Jinan China"},{"name":"Key Laboratory of Endocrine and Metabolic Diseases Shandong Province Medicine &amp; Health Jinan China"},{"name":"Jinan Clinical Research Center for Endocrine and Metabolic Diseases Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruiying","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Cheeloo College of Medicine Qilu Hospital Shandong University Jinan China"},{"name":"Institute of Endocrine and Metabolic Diseases Shandong University Jinan China"},{"name":"Key Laboratory of Endocrine and Metabolic Diseases Shandong Province Medicine &amp; 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Health Jinan China"},{"name":"Jinan Clinical Research Center for Endocrine and Metabolic Diseases Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.019"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.005"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2017.12.004"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI84005"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.023"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-017-0362-z"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-51"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01146-3"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13098-019-0477-z"}],"container-title":["Journal of Diabetes Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdi.13549","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jdi.13549","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdi.13549","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T09:30:46Z","timestamp":1693128646000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdi.13549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,7]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1111\/jdi.13549"],"URL":"https:\/\/doi.org\/10.1111\/jdi.13549","archive":["Portico"],"relation":{},"ISSN":["2040-1116","2040-1124"],"issn-type":[{"type":"print","value":"2040-1116"},{"type":"electronic","value":"2040-1124"}],"subject":[],"published":{"date-parts":[[2021,4,7]]},"assertion":[{"value":"2021-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}