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A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency.

ABSTRACT:

SUBMITTER: Ramos L 

PROVIDER: S-EPMC10955201 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature

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A novel heterozygous <i>SF1</i>/<i>NR5A1</i> gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency.

Ramos Luis L  

Genes & diseases 20231104 4

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