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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 the protein. We present here, the clinical and radiographic details along with, results of mutational analysis of the...

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Source

Identifiers

PMID: 20935402
DOI: 10.4103/0022-3859.70944

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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