Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
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| Description | scientific article published on 2 January 2007 |
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author: Pascal Philibert Bruno Ferraz-de-Souza Gerard S Conway Mehul T Dattani J. Larry Jameson Ieuan Hughes John C. Achermann Neil J. Sebire Daniel Kelberman |
| Publication date | January 2, 2007 |
| Language | English |
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