首例因 4q25 插入性易位导致 AVPR2 中断的先天性肾源性糖尿病患者

{"title":"首例因 4q25 插入性易位导致 AVPR2 中断的先天性肾源性糖尿病患者","authors":"Boram Kim, Yo Han Ahn, Jae Hyeon Park, Han Sol Lim, Seung Won Chae, Jee-Soo Lee, Hee Gyung Kang, Man Jin Kim, Moon-Woo Seong","doi":"10.3343/alm.2023.0361","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"303-305"},"PeriodicalIF":4.0000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10813831/pdf/","citationCount":"0","resultStr":"{\"title\":\"The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by <i>AVPR2</i> Disruption Because of 4q25 Insertional Translocation.\",\"authors\":\"Boram Kim, Yo Han Ahn, Jae Hyeon Park, Han Sol Lim, Seung Won Chae, Jee-Soo Lee, Hee Gyung Kang, Man Jin Kim, Moon-Woo Seong\",\"doi\":\"10.3343/alm.2023.0361\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":8421,\"journal\":{\"name\":\"Annals of Laboratory Medicine\",\"volume\":\" \",\"pages\":\"303-305\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10813831/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Laboratory Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3343/alm.2023.0361\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/12/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Laboratory Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3343/alm.2023.0361","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/12/26 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}