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Article

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

Taiwanese journal of obstetrics & gynecology - 1 Jan 2023

Lu Tsai-Jung, Hsiao Tzu-Hung, Wang Jiaan-Der, Lo Feng-Chu, Jhan Pei-Pei, Chen Wei-Chih

Abstract excerpt

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. The clinical features included ascites and pleural effusion, flattened nasofrontal angle, skin edema, clenched...

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Identifiers

PMID: 36720536
DOI: 10.1016/j.tjog.2022.07.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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