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Updated: Sep 16, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Broader impact and outcome of human NR5A1/SF1 variants

Chrysanthi Kouri1, Rawda Naamneh-Elzenaty1, Idoia Martinez de Lapiscina2

  • 1Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern 3010, Switzerland; Department for BioMedical Research, University of Bern, Bern 3008, Switzerland.

Best Practice & Research. Clinical Endocrinology & Metabolism
|July 11, 2025
PubMed

Keywords:
differences of sex development (DSD)infertilitylong-term outcomemetabolic health/impairmentprimary ovarian insufficiency (POI)spleensteroidogenic factor 1 (SF-1/NR5A1)

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