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Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome |
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| Authors: | Dau-Ming Niu Jing-Ying Huang Hsin-Yang Li Kai-Ming Liu Shih-Ting Wang Yann-Jang Chen Toru Udaka Kosuke Izumi Kenjiro Kosaki |
| Institution: | 1. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
Institute of Clinical Medicine, Yang-Ming University, Taipei, Taiwan;2. Institute of Clinical Medicine, Yang-Ming University, Taipei, Taiwan Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan;3. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan;4. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan |
| Abstract: | |
| Keywords: | Cornelia de Lange syndrome Nipped-B-like gene gonadal mosaicism genetic counselling |