Article

SAME BUT DIFFERENT: GAUCHER DISEASE Rare Cases of Gaucher in Two Siblings with the Same Genotype but Different Phenotype

2023-11-28

Abstract excerpt

<title>Abstract</title> <p>Gaucher disease is a rare autosomal recessive lysosomal storage disease. More than 400 mutations have been identified. Although the disease has a genotype-phenotype relationship, the presence of cases with different phenotypes in the same genotype and phenotypic heterogeneity is noticeable. In this case report, we present 2 siblings with type 1 Gaucher disease carrying the same homozygo...

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Literature Corpus work: 4d370760-2f58-5d6d-9514-1756689cdd54
DOI: 10.21203/rs.3.rs-3646133/v1

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SAME BUT DIFFERENT: GAUCHER DISEASE Rare Cases of Gaucher in Two Siblings with the Same Genotype but Different PhenotypeDOI 10.21203/rs.3.rs-3646133/v1Read

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