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

• Main Authors: Tsai-Jung Lu (Author), Tzu-Hung Hsiao (Author), Jiaan-Der Wang (Author), Feng-Chu Lo (Author), Pei-Pei Jhan (Author), Wei-Chih Chen (Author)
• Format: Book
• Published: Elsevier, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...