Renal tubular acidosis type 3 is an autosomal recessive disorder due to carboanhydrase 2, gene CA2, deficiency. It is characterized by impaired acidification in proximal and distal tubules, osteopterosis type 3, and cerebral calcifications.
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OMIM.ORG article Omim 259730
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Orphanet article Orphanet ID 2785
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