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

• Autores principales: Tsung-Ying Ou (Autor), Meng-Che Tsai (Autor), Pao-Lin Kuo (Autor), Ni-Chung Lee (Autor), Yen-Yin Chou (Autor)
• Formato: Libro
• Publicado: Elsevier, 2022-05-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...