https://scholars.lib.ntu.edu.tw/handle/123456789/624370
標題: | First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome | 作者: | IH-JANE YANG YI-AN TU SONG-PO PAN Huang, Ting-Chi CHIH-LING CHEN MING-WEI LIN Tsai, Yi-Yi Yao, Yi-Lin Su, Yi-Ning SHEE-UAN CHEN |
關鍵字: | Beckwith-Wiedemann syndrome; CDKN1C mutation; Exon-wide sequencing; Linkage analysis; Preimplantation genetic testing | 公開日期: | 一月-2022 | 出版社: | ELSEVIER TAIWAN | 卷: | 61 | 期: | 1 | 起(迄)頁: | 174 | 來源出版物: | Taiwanese journal of obstetrics & gynecology | 摘要: | Beckwith-Wiedemann syndrome (BWS) is a rare imprinting gene disorder. Maternal CDKN1C mutation comprises 5% of etiologies of BWS. There is no successful report of preventing BWS by preimplantation genetic testing for monogenic disease (PGT-M) in the literature. Is PGT-M applicable for preventing BWS ? |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/624370 | ISSN: | 1028-4559 | DOI: | 10.1016/j.tjog.2021.11.030 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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