一名患有高龄-洛肯综合征的婴儿体内的 CEP164 新型致病变体。

{"title":"一名患有高龄-洛肯综合征的婴儿体内的 CEP164 新型致病变体。","authors":"Lili Liu, Yunyu Zhou, Yue Liu, Jiaojiao Ding, Yan Xie, Ningdong Li","doi":"10.1002/ped4.12385","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 2","pages":"140-143"},"PeriodicalIF":1.9000,"publicationDate":"2023-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4e/6b/PED4-7-140.PMC10262869.pdf","citationCount":"0","resultStr":"{\"title\":\"A novel pathogenic variant of <i>CEP164</i> in an infant with Senior-Loken syndrome.\",\"authors\":\"Lili Liu, Yunyu Zhou, Yue Liu, Jiaojiao Ding, Yan Xie, Ningdong Li\",\"doi\":\"10.1002/ped4.12385\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19992,\"journal\":{\"name\":\"Pediatric Investigation\",\"volume\":\"7 2\",\"pages\":\"140-143\"},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2023-06-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4e/6b/PED4-7-140.PMC10262869.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Investigation\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/ped4.12385\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/6/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Investigation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ped4.12385","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/6/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}