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A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development

Differences of sex development (DSDs) are a spectrum of congenital clinical conditions involving the development of gonadal, chromosomal, and anatomical sex. The physical presentation provides incomplete clues because underlying etiologies may present with similar findings. We describe an 8-year-old...

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Detalles Bibliográficos
Autores principales:	Yu, Yunting, Lee, Peter A, Huerta-Saenz, Lina, Allen, Natalie G
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502515/ https://www.ncbi.nlm.nih.gov/pubmed/37719339 http://dx.doi.org/10.1210/jcemcr/luad103

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