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Article

Testicular differentiation factor SF-1 is required for human spleen development

8 Apr 2014

Abstract excerpt

The transcription factor steroidogenic factor 1 (SF-1; also known as NR5A1) is a crucial mediator of both steroidogenic and nonsteroidogenic tissue differentiation. Mutations within SF1 underlie different disorders of sexual development (DSD), including sex reversal, spermatogenic failure, ovarian insufficiency, and adrenocortical deficiency. Here, we identified a recessive mutation within SF1 that resulted in a...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Sexual Differentiation and Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24905461
DOI: 10.1172/jci73186

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