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DiGeorge syndrome who developed lymphoproliferative mediastinal mass

Kyu Yeun Kim, Ji Ae Hur, Ki Hwan Kim, Yoon Jin Cha, Mi Jung Lee, Dong Soo Kim

Clin Exp Pediatr. 2015;58(3):108-111. Published online March 20, 2015

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing...

DOI: https://doi.org/10.3345/kjp.2015.58.3.108

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