{"title":"严重的Shwachman-Diamond综合征和相关的CF携带者突变","authors":"Fauziya Hassan , Craig Byersdorfer , Samya Nasr","doi":"10.1016/j.rmedc.2009.02.001","DOIUrl":null,"url":null,"abstract":"<div><p>Combination of Shwachman-Diamond syndrome genetic mutations and cystic fibrosis carrier mutations can account for severe morbidity and early mortality in a patient with Shwachman-Diamond syndrome.</p></div>","PeriodicalId":89478,"journal":{"name":"Respiratory medicine CME","volume":"3 1","pages":"Pages 18-19"},"PeriodicalIF":0.0000,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rmedc.2009.02.001","citationCount":"1","resultStr":"{\"title\":\"Severe Shwachman-Diamond syndrome and associated CF carrier mutations\",\"authors\":\"Fauziya Hassan , Craig Byersdorfer , Samya Nasr\",\"doi\":\"10.1016/j.rmedc.2009.02.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Combination of Shwachman-Diamond syndrome genetic mutations and cystic fibrosis carrier mutations can account for severe morbidity and early mortality in a patient with Shwachman-Diamond syndrome.</p></div>\",\"PeriodicalId\":89478,\"journal\":{\"name\":\"Respiratory medicine CME\",\"volume\":\"3 1\",\"pages\":\"Pages 18-19\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.rmedc.2009.02.001\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Respiratory medicine CME\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S175500170900027X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Respiratory medicine CME","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S175500170900027X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Severe Shwachman-Diamond syndrome and associated CF carrier mutations
Combination of Shwachman-Diamond syndrome genetic mutations and cystic fibrosis carrier mutations can account for severe morbidity and early mortality in a patient with Shwachman-Diamond syndrome.
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