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Article

Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.

Pediatric pathology & molecular medicine - 1 Jan 2000

Bruder Elisabeth, Stallmach Thomas, Peier Karin, Superti-Furga Andrea, Vezzoni Paolo

Abstract excerpt

Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled...

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Identifiers

PMID: 12687885
DOI: 10.1080/pdp.22.1.3.9

Genes

TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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