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Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia wh...
Autores principales: | Bakkar, Ayman A, Alsaedi, Abdulaziz, Kamal, Naglaa M, Althobaiti, Enad, Aboulkhair, Lujain A, Almalki, Abdullah M, Alsalmi, Shaima A, Alharthi, Qaydah, Abosabie, Sara A, Abosabie, Salma AS |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226314/ https://www.ncbi.nlm.nih.gov/pubmed/37255966 http://dx.doi.org/10.1177/11795514231167059 |
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