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

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...

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Detalhes bibliográficos
Main Authors: Tsung-Ying Ou, Meng-Che Tsai, Pao-Lin Kuo, Ni-Chung Lee, Yen-Yin Chou
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2022-05-01
Colecção:Taiwanese Journal of Obstetrics & Gynecology
Assuntos:
Fraser syndrome/genetics
Intrafamilial variance
Prenatal diagnosis
Oligohydramnios
Whole exome sequencing
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S1028455922000900
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