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July 14, 2015Best Practice & Research Clinical Endocrinology & MetabolismOpen Access

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

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Authors

JSJenifer P. SuntharalinghamFBFederica BuonocoreADAndrew Duncan

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Suntharalingham et al. (2015) studied this question.

synapsesocial.com/papers/69d8f08e2c87b79b92d18377https://doi.org/10.1016/j.beem.2015.07.004
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency2007 · 160 citations
  2. 2The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency2009 · 123 citations
  3. 3The signaling phospholipid PIP <sub>3</sub> creates a new interaction surface on the nuclear receptor SF-12014 · 104 citations
  4. 4X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and Females1999 · 137 citations