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Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome   
Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim
Korean J Pediatr. 2014 January;57(1):46-49.  Publication Date (Online): 2012 October 17
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