[O6] Pediatric Genetics 2

[O6-01] De novo SVA type D insertion in a deep intronic region of NIPBL causing Cornelia de Lange syndrome

Hironao Shirai^1,2, Yuiko Aoki^1,3, Keiko Yamamoto^3,4, Toshiyuki Yamamoto^1,3 (1. Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan, 2. Department of Pediatrics, Kitasato University School of Medicine, 3. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 4. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan)

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