https://scholars.lib.ntu.edu.tw/handle/123456789/627064
Title: | Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome | Authors: | Ou, Tsung-Ying Tsai, Meng-Che Kuo, Pao-Lin NI-CHUNG LEE Chou, Yen-Yin |
Keywords: | Fraser syndrome/genetics; Intrafamilial variance; Oligohydramnios; Prenatal diagnosis; Whole exome sequencing | Issue Date: | May-2022 | Journal Volume: | 61 | Journal Issue: | 3 | Source: | Taiwanese journal of obstetrics & gynecology | Abstract: | To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/627064 | ISSN: | 10284559 | DOI: | 10.1016/j.tjog.2022.03.022 |
Appears in Collections: | 醫學系 |
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