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

• Egile Nagusiak: Tsung-Ying Ou (Egilea), Meng-Che Tsai (Egilea), Pao-Lin Kuo (Egilea), Ni-Chung Lee (Egilea), Yen-Yin Chou (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2022-05-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Objective: 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. Case report: Here are three complicated pregnancies with predominant features of severe oligohydramnios a...