Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

Objective: In order to figure out the cause for two consecutive fetuses with nonimmune hydrops fetalis (NIHF) in a Taiwanese couple, whole-Exome Sequencing and Sanger Sequencing were applied for the family. Case report: The two fetuses developed NIHF at gestation age of 19 and 21 weeks, respectively...

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发表在:	Taiwanese Journal of Obstetrics & Gynecology
Main Authors:	Tsai-Jung Lu, Tzu-Hung Hsiao, Jiaan-Der Wang, Feng-Chu Lo, Pei-Pei Jhan, Wei-Chih Chen
格式:	文件
语言:	英语
出版:	Elsevier 2023-01-01
主题:	Perinatal lethal Gaucher disease Hydrops fetalis GBA gene Whole-exome sequencing
在线阅读:	http://www.sciencedirect.com/science/article/pii/S102845592200362X