{"title":"儿童马赛克病的诊断检查","authors":"Francesca Besagni, Alessandra Gelmetti, Annalucia Virdi, Bianca Maria Piraccini, Iria Neri","doi":"10.1002/jvc2.70077","DOIUrl":null,"url":null,"abstract":"<p>Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology. This is aimed at supporting colleagues operating in genodermatosis clinical practice.</p>","PeriodicalId":94325,"journal":{"name":"JEADV clinical practice","volume":"4 3","pages":"659-663"},"PeriodicalIF":0.5000,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70077","citationCount":"0","resultStr":"{\"title\":\"Diagnostic Workup of Mosaicism in Children\",\"authors\":\"Francesca Besagni, Alessandra Gelmetti, Annalucia Virdi, Bianca Maria Piraccini, Iria Neri\",\"doi\":\"10.1002/jvc2.70077\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology. This is aimed at supporting colleagues operating in genodermatosis clinical practice.</p>\",\"PeriodicalId\":94325,\"journal\":{\"name\":\"JEADV clinical practice\",\"volume\":\"4 3\",\"pages\":\"659-663\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-08-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jvc2.70077\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JEADV clinical practice\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/jvc2.70077\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JEADV clinical practice","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jvc2.70077","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology. This is aimed at supporting colleagues operating in genodermatosis clinical practice.
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