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Review Article
Current insights into inherited bone marrow failure syndromes
Nack-Gyun Chung, Myungshin Kim
Clin Exp Pediatr. 2014;57(8):337-344.   Published online August 25, 2014

Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs...

Case Report
A Case of Shwachman-Diamond Syndrome
Jeong Won Kwak, Suk Kim, Young Tak Lim
Clin Exp Pediatr. 2004;47(8):900-903.   Published online August 15, 2004
Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia...