Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5)

BACKGROUND: Steroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene, is a transcriptional factor crucial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inhe...

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Detalles Bibliográficos
Autores principales: Teoli, Jordan, Mallet, Delphine, Renault, Lucie, Gay, Claire-Lise, Labrune, Elsa, Bretones, Patricia, Giscard D’Estaing, Sandrine, Cuzin, Béatrice, Dijoud, Frédérique, Roucher-Boulez, Florence, Plotton, Ingrid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319352/
https://www.ncbi.nlm.nih.gov/pubmed/37409232
http://dx.doi.org/10.3389/fendo.2023.1171822

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