Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility. NR5A1 gene plays a crucial role in reproduction, steroidogenesis, and sexual differentiation...

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Autores principales: Antonella Gambadauro, Giorgia Pepe, Celeste Casto, Angelo Tropeano, Carmelo Romeo, Malgorzata Wasniewska
Formato: article
Lenguaje:EN
Publicado: Accademia Peloritana dei Pericolanti 2021
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dsd
R
Acceso en línea:https://doaj.org/article/dc8b1da367c04705be89e6d69957d740
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