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: | , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
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Accademia Peloritana dei Pericolanti
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/dc8b1da367c04705be89e6d69957d740 |
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