双等位基因ALPK3相关心肌病染色体15q25.2q25.3的连续基因缺失：表型表现和变异谱的新见解。

{"title":"双等位基因ALPK3相关心肌病染色体15q25.2q25.3的连续基因缺失：表型表现和变异谱的新见解。","authors":"Laura A Grutters,&nbsp;Jolien S Klein Wassink-Ruiter,&nbsp;Trijnie Dijkhuizen,&nbsp;Hessel P Nijenhuis,&nbsp;Jan D H Jongbloed,&nbsp;Johanna C Herkert","doi":"10.1161/CIRCGEN.123.004094","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":6.0000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic <i>ALPK3</i>-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.\",\"authors\":\"Laura A Grutters,&nbsp;Jolien S Klein Wassink-Ruiter,&nbsp;Trijnie Dijkhuizen,&nbsp;Hessel P Nijenhuis,&nbsp;Jan D H Jongbloed,&nbsp;Johanna C Herkert\",\"doi\":\"10.1161/CIRCGEN.123.004094\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":10326,\"journal\":{\"name\":\"Circulation: Genomic and Precision Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":6.0000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Circulation: Genomic and Precision Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1161/CIRCGEN.123.004094\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/9/6 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Circulation: Genomic and Precision Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1161/CIRCGEN.123.004094","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/9/6 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}