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Jongwon Oh, M.D., Ju-Sun Song, M.D., Jong Eun Park, M.D., Shin Yi Jang, Ph.D., Chang-Seok Ki, M.D., and Duk-Kyung Kim, M.D. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene