{"title":"通过多模态超声和全外显子组测序发现遗传性出血性毛细血管扩张相关的肝动静脉畸形:罕见病例描述和文献分析。","authors":"Xiaotian Liu, Guishuang Xiang, Qin Wen, Yitian Long, Yanting Wen","doi":"10.21037/qims-2025-645","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":54267,"journal":{"name":"Quantitative Imaging in Medicine and Surgery","volume":"15 9","pages":"8678-8683"},"PeriodicalIF":2.3000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12397690/pdf/","citationCount":"0","resultStr":"{\"title\":\"Prenatal discovery of hereditary hemorrhagic telangiectasia-associated hepatic arteriovenous malformations by multimodal ultrasound and whole-exome sequencing: a rare case description and literature analysis.\",\"authors\":\"Xiaotian Liu, Guishuang Xiang, Qin Wen, Yitian Long, Yanting Wen\",\"doi\":\"10.21037/qims-2025-645\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":54267,\"journal\":{\"name\":\"Quantitative Imaging in Medicine and Surgery\",\"volume\":\"15 9\",\"pages\":\"8678-8683\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12397690/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Quantitative Imaging in Medicine and Surgery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.21037/qims-2025-645\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/8/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Quantitative Imaging in Medicine and Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.21037/qims-2025-645","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/8 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Prenatal discovery of hereditary hemorrhagic telangiectasia-associated hepatic arteriovenous malformations by multimodal ultrasound and whole-exome sequencing: a rare case description and literature analysis.