携带DNAJB13突变的兄弟姐妹原发性纤毛运动障碍的广泛疾病表现：一个案例研究

{"title":"携带DNAJB13突变的兄弟姐妹原发性纤毛运动障碍的广泛疾病表现：一个案例研究","authors":"Randy Suryadinata, Ophir Bar-On, Paul Martinello, Meghan McKinnon, Philip Robinson","doi":"10.1111/jpc.70149","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":" ","pages":""},"PeriodicalIF":1.6000,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Wide Spectrum of Disease Manifestations in Siblings With Primary Ciliary Dyskinesia Carrying DNAJB13 Mutations: A Case Study.\",\"authors\":\"Randy Suryadinata, Ophir Bar-On, Paul Martinello, Meghan McKinnon, Philip Robinson\",\"doi\":\"10.1111/jpc.70149\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":16648,\"journal\":{\"name\":\"Journal of paediatrics and child health\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2025-07-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of paediatrics and child health\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/jpc.70149\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of paediatrics and child health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/jpc.70149","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}