SUN-712 Familial 46, XY Complete Female External Sex Development with a Non-Mosaic Inherited SRY Gene Variation

Context: SRY, an architectural transcription factor containing a SOX-related high-mobility group (HMG) box, initiates testis formation in the mammalian bipotential gonadal ridge. Inherited human SRY mutations can be associated with differences in sexual differentiation (DSD) with variable phenotypes...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Vaiani, Elisa, Chen, Yen-Shan, Ramirez, Pablo, Baquedano, Maria Sonia, Malosetti, Maria del carmen, Racca, Joseph, Touzon, Maria Sol, Marino, Roxana, Costanzo, Mariana, Bailez, Marcela, Berensztein, Esperanza, Galuzzo, Laura, Weiss, Michael Aaron, Belgorosky, Alicia
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
Assuntos:
Genetics and Development (including Gene Regulation)
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209037/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.656
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