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Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The

Rawda Naamneh Elzenaty1,2,3, Idoia Martinez de Lapiscina1,2,4,5,6,7, Chrysanthi Kouri1,2,3

  • 1Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.

The Journal of Clinical Endocrinology and Metabolism
|April 16, 2024
PubMed
Abstract

Keywords:
broad phenotypedifferences of sex development (DSD)genotype-phenotype correlationsteroidogenic factor 1 (SF-1/NR5A1)

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