{"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}
引用次数: 1
Abstract
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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