Article
Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis.
Scientific reports - 13 Feb 2026
Fabbri-Scallet Helena, Calonga-Solís Verónica, Guerra-Júnior Gil, de Mello Maricilda Palandi, Maciel-Guerra Andréa Trevas, Miranda Márcio Lopes, Antolini-Tavares Arthur, Busch Hauke, Künstner Axel, Werner Ralf, Hiort Olaf
Abstract excerpt
Differences of sex development (DSD) comprise a heterogeneous group of conditions involving atypical chromosomal, gonadal, or anatomical sex. While genetic causes have been extensively studied, transcriptional programs underlying human gonadal differentiation remain poorly understood. In this study, we performed transcriptome profiling of gonadal tissue from 11 individuals with DSD and compared them to...
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