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Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations
BACKGROUND: In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expre...
Autores principales: | Knower, Kevin C., Kelly, Sabine, Ludbrook, Louisa M., Bagheri-Fam, Stefan, Sim, Helena, Bernard, Pascal, Sekido, Ryohei, Lovell-Badge, Robin, Harley, Vincent R. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055899/ https://www.ncbi.nlm.nih.gov/pubmed/21412441 http://dx.doi.org/10.1371/journal.pone.0017751 |
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