Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome

Ou, Tsung-YingTsung-YingOuTsai, Meng-CheMeng-CheTsaiKuo, Pao-LinPao-LinKuoNI-CHUNG LEEChou, Yen-YinYen-YinChou2023-01-092023-01-092022-0510284559https://scholars.lib.ntu.edu.tw/handle/123456789/627064To 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.enFraser syndrome/genetics; Intrafamilial variance; Oligohydramnios; Prenatal diagnosis; Whole exome sequencing[SDGs]SDG3Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome10.1016/j.tjog.2022.03.022355954502-s2.0-85128206787https://api.elsevier.com/content/abstract/scopus_id/85128206787