Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. The coding exons, namely exons II-X, of the CYP19 gene were amplified by PC...
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| Publicado no: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
1993
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC48046/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8265607/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.90.24.11673 |
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