Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 21, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.ymgmr.2019.100532
Keywords
Gaucher disease; GBA; Genotype-phenotype correlation
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Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a family, in which all members over two generations presented with at least splenomegaly. Comprehensive clinical, biochemical and genetic workup was required to diagnose GD, which is caused by as many as four distinct GBA genotypes.
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