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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...

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Detalles Bibliográficos
Autores principales: Ur Rehman, Saad, Aftab, Sommayya, Naseem, Aamir, Saeed, Anjum, Cheema, Huma Arshad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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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