Respiratory Medicine CME
Volume 3, Issue 1 , Pages 18-19, 2010

Severe Shwachman-Diamond syndrome and associated CF carrier mutations

  • Fauziya Hassan

      Affiliations

    • Division of Pediatric Pulmonology, University of Michigan, Ann Arbor, MI, USA
    • ,
  • Craig Byersdorfer

      Affiliations

    • Division of General Pediatrics, University of Michigan, Ann Arbor, MI, USA
    • ,
  • Samya Nasr

      Affiliations

    • Division of Pediatric Pulmonology, University of Michigan, Ann Arbor, MI, USA
    • Corresponding Author InformationCorresponding author at: Division of Pediatric Pulmonology, University of Michigan, Women's Hospital, 1500 East Medical Center Drive, Room L2221, Ann Arbor, MI 48109-5217, USA.

Received 26 January 2009; accepted 4 February 2009.

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.

Keywords: Cystic fibrosis, Shwachman-Diamond syndrome Carriers

 

PII: S1755-0017(09)00027-X

doi:10.1016/j.rmedc.2009.02.001

Respiratory Medicine CME
Volume 3, Issue 1 , Pages 18-19, 2010

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