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Article

Identification of a novel mutation in an Indian patient with CAII deficiency syndrome.

Journal of postgraduate medicine - 1 Jan 2000

Shivaprasad C, Paliwal P, Khadgawat R, Sharma A

Abstract excerpt

Carbonic anhydrase II (CAII) deficiency syndrome characterized by osteopetrosis (OP), renal tubular acidosis (RTA), and cerebral calcifications is caused by mutations in the carbonic anhydrase 2 (CA2) gene. Severity of this disorder varies depending on the nature of the mutation and its effect on...

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Identifiers

PMID: 20935402
DOI: 10.4103/0022-3859.70944

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20935402-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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