Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature

• Main Authors: Zilong Qiu (Author), Wan-Ting Chang (Author), Yu-Ching Chou (Author), Kuo-Chang Wen (Author), Yang Ziying (Author), Kayiu Yuen (Author), Xiongying Cai (Author), Tung-yao Chang (Author), Hung-Cheng Lai (Author), Pi-Lin Sung (Author)
• Format: Book
• Published: Elsevier, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We aimed to identify the genetic cause of one hydrops fetalis with Noonan syndrome (NS) manifestations including increased nuchal translucency (INT) and ascites through prenatal whole exome sequencing (WES). Case report: The case is a gestational age (GA) 18 fetus of two healthy parents w...