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Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient

BACKGROUND: 11β hydroxylase deficiency (11βOHD) ranks as the second most common enzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased mineralocorticoid pr...

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Detalles Bibliográficos
Autores principales: Ozbas, Burak, Demir, Mikail, Dursun, Huseyin, Sahin, Izem, Hacioglu, Aysa, Karaca, Zuleyha, Dundar, Munis, Unluhizarci, Kursad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10249131/
https://www.ncbi.nlm.nih.gov/pubmed/36214299
http://dx.doi.org/10.2174/1871530322666221007145410