Ectodermal dysplasia/skin fragility syndrome: first Italian case due to a new homozygous mutation in the PKP1 gene.

{"title":"Ectodermal dysplasia/skin fragility syndrome: first Italian case due to a new homozygous mutation in the PKP1 gene.","authors":"Riccardo Balestri, Davide Geat, Francesca Rivieri, Annalisa Pedrolli, Ilaria Palmieri, Enza M Valente, Stefania Termine, Aldo Naselli, Laura Nai Fovino, Danila D'Onofrio, Laura Rizzoli","doi":"10.23736/S2784-8671.25.08197-6","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":14526,"journal":{"name":"Italian Journal of Dermatology and Venereology","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Italian Journal of Dermatology and Venereology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.23736/S2784-8671.25.08197-6","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}