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Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports
Aldosterone synthase deficiency (ASD) is a rare autosomal recessive condition due to an inactivating mutation in CYP11B2. There are two types of ASD depending upon level of defect in aldosterone synthesis, corticosterone methyl oxidase type 1 (CMO 1) and type 2 (CMO 2) deficiency. We are reporting t...
Autores principales: | Ur Rehman, Saad, Aftab, Sommayya, Naseem, Aamir, Saeed, Anjum, Cheema, Huma Arshad |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276578/ https://www.ncbi.nlm.nih.gov/pubmed/37332400 http://dx.doi.org/10.7759/cureus.39181 |
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