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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...
Autores principales: | Ozbas, Burak, Demir, Mikail, Dursun, Huseyin, Sahin, Izem, Hacioglu, Aysa, Karaca, Zuleyha, Dundar, Munis, Unluhizarci, Kursad |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bentham Science Publishers
2023
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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 |
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