Mutations in NR5A1 Associated with Ovarian Insufficiency

BACKGROUND: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of...

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Main Authors: Lourenço, Diana, Brauner, Raja, Lin, Lin, De Perdigo, Arantzazu, Weryha, Georges, Muresan, Mihaela, Boudjenah, Radia, Guerra-Junior, Gil, Maciel-Guerra, Andréa T., Achermann, John C., McElreavey, Ken, Bashamboo, Anu
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2778147/
https://ncbi.nlm.nih.gov/pubmed/19246354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0806228
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