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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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2023-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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