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

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

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...

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Bibliographic Details
Main Authors: Zilong Qiu, Wan-Ting Chang, Yu-Ching Chou, Kuo-Chang Wen, Yang Ziying, Kayiu Yuen, Xiongying Cai, Tung-yao Chang, Hung-Cheng Lai, Pi-Lin Sung
Format: Article
Language:English
Published: Elsevier 2022-05-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Hydrops fetalis
Noonan syndrome
Prenatal whole exome sequencing
RIT1
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455922000936

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http://www.sciencedirect.com/science/article/pii/S1028455922000936

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