{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:24:19Z","timestamp":1747185859598,"version":"3.40.5"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T00:00:00Z","timestamp":1596672000000},"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":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>L\u00e9ri\u2013Weill dyschondrosteosis (LWD) is usually caused by haploinsufficiency of the short stature homeobox\u2010containing gene (<jats:italic>SHOX<\/jats:italic>). The clinical manifestation of this disease is a classic triad, which are short stature, mesomelia and Madelung deformity. LWD also includes other features, such as high body mass index. Short stature and high body mass index are risk factors of type\u00a02 diabetes mellitus and cardiovascular disease; however, LWD combined with type\u00a02 diabetes mellitus or metabolic syndrome have not been described in the literature. In this article, we report a case of LWD caused by an M1T mutation of the start codon of the <jats:italic>SHOX<\/jats:italic> gene. The patient also had type\u00a02 diabetes mellitus, hypertension and dyslipidemia. It is suggested that patients with LWD should be identified promptly, and the prevention and treatment of metabolic diseases and cardiovascular disease should be taken into consideration in patients with LWD.<\/jats:p>","DOI":"10.1111\/jdi.13350","type":"journal-article","created":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T12:00:06Z","timestamp":1594123206000},"page":"446-449","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Metabolic syndrome coexists with adult L\u00e9ri\u2013Weill dyschondrosteosis: A case report"],"prefix":"10.1111","volume":"12","author":[{"given":"Dongdong","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Institute of Endocrinology Liaoning Provincial Key Laboratory of Endocrine Diseases The First Affiliated Hospital of China Medical University Shenyang Liaoning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9388-0734","authenticated-orcid":false,"given":"Xiaoli","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Institute of Endocrinology Liaoning Provincial Key Laboratory of Endocrine Diseases The First Affiliated Hospital of China Medical University Shenyang Liaoning China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046581"},{"volume-title":"GeneReviews\u00ae","year":"1993","author":"Binder G","key":"e_1_2_6_3_1"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph7031047"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.695"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03345793"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2016-1036"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2019.07.001"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.1"},{"key":"e_1_2_6_10_1","first-page":"443","article-title":"Short adult stature predicts impaired beta\u2010cell function, insulin resistance, glycemia, and type 2 diabetes in Finnish men","volume":"102","author":"Vangipurapu J","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra030360"}],"container-title":["Journal of Diabetes Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjdi.13350","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdi.13350","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jdi.13350","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdi.13350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T12:42:15Z","timestamp":1693658535000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdi.13350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,6]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1111\/jdi.13350"],"URL":"https:\/\/doi.org\/10.1111\/jdi.13350","archive":["Portico"],"relation":{},"ISSN":["2040-1116","2040-1124"],"issn-type":[{"type":"print","value":"2040-1116"},{"type":"electronic","value":"2040-1124"}],"subject":[],"published":{"date-parts":[[2020,8,6]]},"assertion":[{"value":"2020-04-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}