دورية أكاديمية
Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene
| العنوان: | Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene |
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| المؤلفون: | Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María |
| المصدر: | Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 195-198 (2023) |
| بيانات النشر: | De Gruyter, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medical technology |
| مصطلحات موضوعية: | adrenal insufficiency, congenital adrenal hypoplasia, nr0b1, Medical technology, R855-855.5 |
| الوصف: | Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Spanish; Castilian |
| تدمد: | 2628-491X |
| Relation: | https://doaj.org/toc/2628-491X |
| DOI: | 10.1515/almed-2023-0018 |
| URL الوصول: | https://doaj.org/article/9e0413265b3141d0a1d7f37f6abfa7df |
| رقم الأكسشن: | edsdoj.9e0413265b3141d0a1d7f37f6abfa7df |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 2628491X |
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| DOI: | 10.1515/almed-2023-0018 |