Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report

Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report

Objective: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease. Case report: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fe...

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Bibliographic Details
Main Authors: Chin-Chieh Hsu, Ni-Chung Lee, Yin-Hsiu Chien, Chao-Fan Liu, Yao-Lung Chang
Format: Article
Language:English
Published: Elsevier 2024-09-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Gaucher's disease
Hydrops fetalis
Whole exon sequencing
Copy number variation
Lysosome storage disorder
Compound heterozygosity
Online Access:http://www.sciencedirect.com/science/article/pii/S102845592400192X

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http://www.sciencedirect.com/science/article/pii/S102845592400192X

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