{"title":"New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470)","authors":"Sandra Maeso-Méndez , Saioa Jiménez Echevarría , Zuriñe García Casales , Ignacio Díez López","doi":"10.1016/j.anpede.2025.503771","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":93868,"journal":{"name":"Anales de pediatria","volume":"102 4","pages":"Article 503771"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anales de pediatria","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2341287925000869","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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