显性营养不良性表皮松解症和孤立遗传性指甲紊乱家族的诊断难题：父系COL7A1基因突变和母系RSPO4基因变异的染色体嵌合。

{"title":"显性营养不良性表皮松解症和孤立遗传性指甲紊乱家族的诊断难题：父系COL7A1基因突变和母系RSPO4基因变异的染色体嵌合。","authors":"Ayşe Öktem, Berna Özaydın, Kaan Gündüz, Ezgi Gökpınar İli, Hatice Şanlı, İbrahim Kaplan, Nüket Yürür Kutlay","doi":"10.1093/ced/llae215","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":"1485-1488"},"PeriodicalIF":3.7000,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant.\",\"authors\":\"Ayşe Öktem, Berna Özaydın, Kaan Gündüz, Ezgi Gökpınar İli, Hatice Şanlı, İbrahim Kaplan, Nüket Yürür Kutlay\",\"doi\":\"10.1093/ced/llae215\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":10324,\"journal\":{\"name\":\"Clinical and Experimental Dermatology\",\"volume\":\" \",\"pages\":\"1485-1488\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-10-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical and Experimental Dermatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/ced/llae215\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Experimental Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/ced/llae215","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DERMATOLOGY","Score":null,"Total":0}