一种新的TNNC1变异与引起婴儿死亡和死产的严重扩张型心肌病相关:种系嵌合体的一个案例

{"title":"一种新的TNNC1变异与引起婴儿死亡和死产的严重扩张型心肌病相关:种系嵌合体的一个案例","authors":"R. Udani, Kala F Schilter, Rebecca C. Tyler, Brandon A. Smith, Jaime Wendt-Andrae, Ulrike P. Kappes, G. Scharer, A. Lehman, M. Steinraths, H. Reddi","doi":"10.1007/s12041-022-01412-8","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"71 1","pages":"1-5"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism\",\"authors\":\"R. Udani, Kala F Schilter, Rebecca C. Tyler, Brandon A. Smith, Jaime Wendt-Andrae, Ulrike P. Kappes, G. Scharer, A. Lehman, M. Steinraths, H. Reddi\",\"doi\":\"10.1007/s12041-022-01412-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":49279,\"journal\":{\"name\":\"the Korean Journal of Genetics\",\"volume\":\"71 1\",\"pages\":\"1-5\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"the Korean Journal of Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12041-022-01412-8\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"the Korean Journal of Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12041-022-01412-8","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}