80：揭示巴西大疱性表皮松解症患者的表型：使用靶向基因面板进行下一代测序的影响

{"title":"80：揭示巴西大疱性表皮松解症患者的表型：使用靶向基因面板进行下一代测序的影响","authors":"Amadeu José Queiróz PhD , Chales Marques Lourenço PhD","doi":"10.1016/j.jid.2025.02.088","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"145 3","pages":"Page e20"},"PeriodicalIF":5.7000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"80: Unraveling Phenotypes in Brazilian Patients with Epidermolysis Bullosa: The Impact of Next Generation Sequencing with a Targeted Gene Panel\",\"authors\":\"Amadeu José Queiróz PhD , Chales Marques Lourenço PhD\",\"doi\":\"10.1016/j.jid.2025.02.088\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":16311,\"journal\":{\"name\":\"Journal of Investigative Dermatology\",\"volume\":\"145 3\",\"pages\":\"Page e20\"},\"PeriodicalIF\":5.7000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Investigative Dermatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0022202X25002465\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/3/17 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Investigative Dermatology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0022202X25002465","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/17 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"DERMATOLOGY","Score":null,"Total":0}