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Article

[Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases].

La Tunisie medicale - 1 Jul 2005

Sonia Halioui-Louhaichi, Mohamed Fraj, Mohamed Bejaoui, Rafika Alouini, Dehmani Fathallah, Kossay Dallagi, Azza Hammou

Abstract excerpt

Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy. All affected subjects show craniofacial disproportion and dental anomalies. Twenty patients have at least one bone fracture. Metabolic acidosis is constant: it...

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PMID: 16220698

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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