Original paper
The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome
Abstract
Shwachman-Diamond syndrome (SDS) is an inherited marrow failure syndrome associated with exocrine pancreatic dysfunction and an increased risk of myelodysplasia and leukemia. The majority of individuals with SDS carry biallelic SBDS gene mutations, however a subset of patients remain genetically undefined. The objective of this study was to compare the clinical characteristics of patients with and without SBDS mutations. To address these...
Paper Details
Title
The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome
Published Date
Dec 3, 2015
Journal
Volume
126
Issue
23
Pages
3614 - 3614
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Notes
History