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Case Reports
. 2014 Oct;93(10):1787-9.
doi: 10.1007/s00277-014-2036-x. Epub 2014 Feb 28.

Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Maciej Machaczka  1 , Monika Klimkowska
Affiliations
Case Reports

Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Maciej Machaczka et al. Ann Hematol. 2014 Oct.
No abstract available

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Figures

Fig. 1
Fig. 1
a A large scar after splenectomy. b, c Primary skeletal deformations of the right leg and the left arm (marked red), followed by the secondary deformations of the spine and the left feet (marked black). d Bone marrow cytology; centrally placed histiocyte with Gaucher cell morphology (MGG stain). e, f Bone marrow histology; prominent histiocytic infiltrates composed of Gaucher cells; iron-hematoxylin stain (e) and HE stain (f)
See this image and copyright information in PMC

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References

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