Severe Shwachman-Diamond syndrome and associated CF carrier mutations
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.
aDivision of Pediatric Pulmonology, University of Michigan, Ann Arbor, MI, USA
bDivision of General Pediatrics, University of Michigan, Ann Arbor, MI, USA
Corresponding 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.
ABSTRACT