TCIRG1-Related Osteopetrosis.
Jodeh W, Alam I, Econs M.
Jodeh W, et al.
2025 Aug 28. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
2025 Aug 28. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID: 40875877
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CLINICAL CHARACTERISTICS: TCIRG1-related osteopetrosis is characterized by growth deficiency, pathologic fractures of dense but brittle bones, limping gait with bone pain, hypocalcemia that can result in seizures, and secondary hyperparathyroidism. Advanced bone sclerosis …
CLINICAL CHARACTERISTICS: TCIRG1-related osteopetrosis is characterized by growth deficiency, pathologic fractures of dense but britt …