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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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2023-01-01
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| Serie: | Taiwanese Journal of Obstetrics & Gynecology |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S102845592200362X |
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