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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 marrow involvement, chronic diarrhea, and hepatosplenomegaly. Direct sequencing using amplimers from reverse...

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Identifiers

PMID: 9797083
DOI: 10.1007/s002770050428

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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