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.
References in periodicals archive ?
Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome.
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcifications): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.
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