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  • Title: Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.
    Author: Cotter M, Connell T, Colhoun E, Smith OP, McMahon C.
    Journal: J Pediatr Hematol Oncol; 2005 Feb; 27(2):115-7. PubMed ID: 15701991.
    Abstract:
    The authors present a case of osteopetrosis due to carbonic anhydrase II deficiency. Clinical, laboratory and radiologic findings are reported. The genetics of osteopetrosis are reviewed.
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