Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference12 articles.
1. A review of Gaucher disease pathophysiology, clinical presentation and treatments;Stirnemann;Int J Mol Sci,2017
2. The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients;Stirnemann;Orphanet J Rare Dis,2012
3. Perinatal-lethal Gaucher disease;Mignot;Am J Med Genet,2003
4. A neonatal case with perinatal lethal Gaucher disease associated with missense G234E and H413P heterozygous mutations;Wei;Front Pediatr,2019
5. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations;Goebl;Pediatr Dev Pathol,2011
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1. 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;Taiwanese Journal of Obstetrics and Gynecology;2024-09
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