c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease.

doi:10.1007/s002770050428

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Article

c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease.

Annals of hematology - 1 Sept 1998

Reinacher-Schick A, Petrasch S, Longley B J, Teschendorf C, Graeven U, Schmiegel W

Abstract excerpt

We describe the case of a 69-year-old man with systemic mastocytosis and severe osteopetrosis who carries a somatic activating mutation in the c-kit proto-oncogene. The patient initially presented with urticaria pigmentosa, progressing to systemic mast cell disease with severe anemia due to bone...

Topics

Aged
Humans
Male
Mastocytosis
Mutation
Osteopetrosis
Proto-Oncogene Mas
Proto-Oncogene Proteins c-kit
Tomography, X-Ray Computed

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