carbonic anhydrase II deficiency syndrome
car·bon·ic an·hy·drase II de·fi·cien·cy syn·drome
an inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis.
Synonym(s): osteopetrosis with renal tubular acidosis
References in periodicals archive
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Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.
Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J 2002; 23:25-29.
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- carbonic anhydrase 12
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