Ann Lab Med 2017; 37(6): 559-562  
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene
Jongwon Oh, M.D.1, Ju-Sun Song, M.D.1, Jong Eun Park, M.D.1, Shin Yi Jang, Ph.D.2, Chang-Seok Ki, M.D.1, and Duk-Kyung Kim, M.D.2
Department of Laboratory Medicine and Genetics1, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Division of Cardiology2, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence to: 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: Duk-Kyung Kim
Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Heart Vascular and Stroke Institute Imaging Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-3419, Fax: +82-2-3410-3849, E-mail: dukkyung.kim@gmail.com
Received: March 5, 2017; Revised: March 29, 2017; Accepted: July 10, 2017; Published online: November 1, 2017.
© The Korean Society for Laboratory Medicine. All rights reserved.

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