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Pubertal development in 46,XY patients with NR5A1 mutations

PURPOSE: Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic Factor-1, are associated with a highly variable genital phenotype in patients with 46,XY differences of sex development (DSD). Our objective was to analyse the pubertal development in 46,XY patients with NR5A1 muta...

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Detalles Bibliográficos
Autores principales: Mönig, Isabel, Schneidewind, Julia, Johannsen, Trine H., Juul, Anders, Werner, Ralf, Lünstedt, Ralf, Birnbaum, Wiebke, Marshall, Louise, Wünsch, Lutz, Hiort, Olaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816419/
https://www.ncbi.nlm.nih.gov/pubmed/34613524
http://dx.doi.org/10.1007/s12020-021-02883-y