ArticleIntractable & rare diseases research2023
Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous
Article in Intractable & rare diseases research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Enamel matrix acidification caused by loss of amelogenin phosphorylation disrupts ameloblast pH-regulatory machinery.JBMR plus · 2026Article
- Multiple cases of osteopetrosis-like disease in young broiler flocks in Germany.Poultry science · 2026Article
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Authors and funding
8 authors.
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Abstract
We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger sequencing was undertaken for molecular diagnosis. The patient presented with osteopetrosis, renal tubular acidosis, cerebral calcification, blindness, deafness, and development delay. The oral manifestations included anterior open bite, posterior crossbite, tooth eruption impairment, and hypoplastic amelogenesis imperfecta (AI). Molecular analysis revealed a
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