Ann Lab Med 2018; 38(3): 283-286  
PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)
Jong Eun Park, M.D.1,*, Eun Jung Lee, M.D.2,*, Chang-Seok Ki, M.D.1, and Changwon Kee, M.D.2
Departments of Laboratory Medicine and Genetics1 and Ophthalmology2, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Corresponding author: Chang-Seok Ki
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2709, Fax: +82-2-3410-2719, E-mail: changski@skku.edu
Co-corresponding author: Changwon Kee
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-3569, Fax: +82-2-3410-0074, E-mail: ckee@skku.edu
*These authors contributed equally to this work.
Received: June 4, 2017; Revised: July 6, 2017; Accepted: November 29, 2017; Published online: May 1, 2018.
© Korean Society for Laboratory Medicine. All rights reserved.

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