{"title":"新发现的HNF1β基因杂合缺失——患有抗体阴性糖尿病、长期高血糖但无酮症、白内障、伴有皮质囊肿的小回声肾、胰腺萎缩、外分泌胰腺功能不全和子宫异常的青少年","authors":"L. Conwell, I. McGown","doi":"10.1186/1687-9856-2015-S1-P1","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":14271,"journal":{"name":"International Journal of Pediatric Endocrinology","volume":"3 1","pages":"P1 - P1"},"PeriodicalIF":0.0000,"publicationDate":"2015-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Novel heterozygous deletion in the HNF1β gene - adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with a cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency and a uterine anomaly\",\"authors\":\"L. Conwell, I. McGown\",\"doi\":\"10.1186/1687-9856-2015-S1-P1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":14271,\"journal\":{\"name\":\"International Journal of Pediatric Endocrinology\",\"volume\":\"3 1\",\"pages\":\"P1 - P1\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-04-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Pediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/1687-9856-2015-S1-P1\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/1687-9856-2015-S1-P1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Novel heterozygous deletion in the HNF1β gene - adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with a cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency and a uterine anomaly