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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...

DOI: https://doi.org/10.3345/kjp.2014.57.8.337

Original Article

Diamond-Blackfan anemia: long-term follow-up of six cases

Young Jun Son, Hee Jo Baek, Hoon Kook

Clin Exp Pediatr. 2008;51(11):1211-1216. Published online November 15, 2008

Purpose : Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. Methods :...

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Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)