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Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. The DAX-1 protein (encoded by NR0B1) is a vertebrate-specific orphan nuclear recept...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8352982/ https://www.ncbi.nlm.nih.gov/pubmed/34373561 http://dx.doi.org/10.1038/s41598-021-95642-y |