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dc.contributor.authorLeite, Luan Deives Rodrigues-
dc.contributor.authorResende, Kêmelly Karolliny Moreira-
dc.contributor.authorRosa, Lídia dos Santos-
dc.contributor.authorMazzeu, Juliana Forte-
dc.contributor.authorOliveira, Livia Claudio de-
dc.contributor.authorScher, Maria do Carmo Sorci Dias-
dc.contributor.authorAcevedo, Ana Carolina-
dc.contributor.authorYamaguti, Paulo Marcio-
dc.date.accessioned2024-11-01T15:04:43Z-
dc.date.available2024-11-01T15:04:43Z-
dc.date.issued2023-
dc.identifier.citationLEITE, Luan Deives Rodrigues et al. Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion. Intractable & Rare Diseases Research, [S. l.], v. 12, n. 3, 202-205, 2023. DOI: 10.5582/irdr.2023.01033.pt_BR
dc.identifier.urihttp://repositorio.unb.br/handle/10482/50775-
dc.language.isoengpt_BR
dc.publisherInternational Advancement Center for Medicine & Health Research Co., Ltd.pt_BR
dc.rightsAcesso Abertopt_BR
dc.titleCarbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletionpt_BR
dc.typeArtigopt_BR
dc.subject.keywordAmelogênese imperfeitapt_BR
dc.subject.keywordOsteopetrosept_BR
dc.subject.keywordAcidose tubular renalpt_BR
dc.subject.keywordAnidrase carbônica IIpt_BR
dc.identifier.doi10.5582/irdr.2023.01033pt_BR
dc.relation.publisherversionhttps://www.irdrjournal.com/article/2445pt_BR
dc.description.abstract1We 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 CA2 homozygous deletion (c.753delG, p.Asn252Thrfs*14) and confirmed the clinical diagnosis. This study suggests that AI can be another feature of CAII deficiency syndrome. For the first time, a CA2 disease-causing variant is reported to be associated with syndromic AI.pt_BR
dc.contributor.affiliationUniversity of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseasespt_BR
dc.contributor.affiliationUniversity of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseasespt_BR
dc.contributor.affiliationUniversity of Brasilia, Faculty of Health Sciences, Department of Dentistry, Laboratory of Oral Histopathologypt_BR
dc.contributor.affiliationUniversity of Brasilia, Faculty of Medicine, Laboratory of Clinical Geneticspt_BR
dc.contributor.affiliationUniversity of Brasilia, University Hospital of Brasilia, Unit of Pediatric Nephrologypt_BR
dc.contributor.affiliationUniversity of Brasilia, University Hospital of Brasilia, Unit of Pediatric Nephrologypt_BR
dc.contributor.affiliationUniversity of Brasilia, Faculty of Health Sciences, Department of Dentistry, Laboratory of Oral Histopathologypt_BR
dc.contributor.affiliationUniversity of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseasespt_BR
dc.description.unidadeHospital Universitário de Brasília (HUB)pt_BR
dc.description.unidadeFaculdade de Ciências da Saúde (FS)pt_BR
dc.description.unidadeDepartamento de Odontologia (FS ODT)pt_BR
dc.description.unidadeFaculdade de Medicina (FM)pt_BR
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