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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Authors | Melanie Cotter, Thomas Connell, Eric Colhoun, Owen P Smith, Corrina McMahon |
Journal | Journal of pediatric hematology/oncology
(J Pediatr Hematol Oncol)
Vol. 27
Issue 2
Pg. 115-7
(Feb 2005)
ISSN: 1077-4114 [Print] United States |
PMID | 15701991
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Acidosis, Renal Tubular
(etiology, genetics)
- Brain
(pathology)
- Calcinosis
- Carbonic Anhydrase II
(deficiency)
- Humans
- Infant
- Male
- Osteopetrosis
(etiology, genetics)
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