Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function

CONTEXT: Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis, and reproduction. Targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-re...

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Main Authors: Lin, Lin, Philibert, Pascal, Ferraz-de-Souza, Bruno, Kelberman, Daniel, Homfray, Tessa, Albanese, Assunta, Molini, Veruska, Sebire, Neil J., Einaudi, Silvia, Conway, Gerard S., Hughes, Ieuan A., Jameson, J. Larry, Sultan, Charles, Dattani, Mehul T., Achermann, John C.
格式: Artigo
語言:Inglês
出版: 2007
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1872053/
https://ncbi.nlm.nih.gov/pubmed/17200175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2006-1672
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