通过全外显子组测序确诊的一例伴有斑驳色素沉着的单纯表皮松解症患者和一个局部单纯表皮松解症家族

{"title":"通过全外显子组测序确诊的一例伴有斑驳色素沉着的单纯表皮松解症患者和一个局部单纯表皮松解症家族","authors":"","doi":"10.35541/cjd.20220348","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":10079,"journal":{"name":"中华皮肤科杂志","volume":"55 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case of epidermolysis bullosa simplex with mottled pigmentation and a family with localized epidermolysis bullosa simplex diagnosed by whole-exome sequencing\",\"authors\":\"\",\"doi\":\"10.35541/cjd.20220348\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":10079,\"journal\":{\"name\":\"中华皮肤科杂志\",\"volume\":\"55 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中华皮肤科杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.35541/cjd.20220348\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华皮肤科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.35541/cjd.20220348","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}