由基因ERCC6的新生突变引起的柯凯因综合征B伴轴突感觉运动多神经病变：一种新的表型和基因型变异

{"title":"由基因ERCC6的新生突变引起的柯凯因综合征B伴轴突感觉运动多神经病变：一种新的表型和基因型变异","authors":"R. Ghosh , M. León-Ruiz , A.S. Mondal , S. Dubey , J. Benito-León","doi":"10.1016/j.nrl.2024.01.003","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 484-487"},"PeriodicalIF":3.1000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cockayne syndrome B with axonal sensorimotor polyneuropathy caused by a de novo mutation of the gene ERCC6: A novel phenotypic and genotypic variant\",\"authors\":\"R. Ghosh , M. León-Ruiz , A.S. Mondal , S. Dubey , J. Benito-León\",\"doi\":\"10.1016/j.nrl.2024.01.003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19300,\"journal\":{\"name\":\"Neurologia\",\"volume\":\"40 5\",\"pages\":\"Pages 484-487\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurologia\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0213485325000131\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurologia","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0213485325000131","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}