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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...

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Detalles Bibliográficos
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.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
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