通过常规全基因组测序确诊一名颅内非erminomatous生殖细胞瘤患儿患有努南综合征。

{"title":"通过常规全基因组测序确诊一名颅内非erminomatous生殖细胞瘤患儿患有努南综合征。","authors":"Shathar Mahmood, Sarah M. Leiter, Poe Phyu, Claudia Craven, Gail Horan, Jennifer Gains, Mayen Briggs, Esther Blanco, Sam Behjati, James Watkins, John A. Tadross, Thomas Roberts, Jamie Trotman, Patrick Tarpey, Ruth Armstrong, Matthew J. Murray","doi":"10.1002/pbc.31368","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A diagnosis of Noonan syndrome through routine whole genome sequencing in a child with an intracranial nongerminomatous germ cell tumor\",\"authors\":\"Shathar Mahmood, Sarah M. Leiter, Poe Phyu, Claudia Craven, Gail Horan, Jennifer Gains, Mayen Briggs, Esther Blanco, Sam Behjati, James Watkins, John A. Tadross, Thomas Roberts, Jamie Trotman, Patrick Tarpey, Ruth Armstrong, Matthew J. Murray\",\"doi\":\"10.1002/pbc.31368\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19822,\"journal\":{\"name\":\"Pediatric Blood & Cancer\",\"volume\":\"71 12\",\"pages\":\"\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-10-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Blood & Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/pbc.31368\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Blood & Cancer","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/pbc.31368","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}