Associated Papers
Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.
Fouatih K et al.
Endocrine Connections, 2025
Genetic and Clinical Characteristics of 185 Japanese Children With 46,XY Differences of Sex Development.
Hayashi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
Hattori A et al.
Human Genome Variation, 2017
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L et al.
American Journal of Medical Genetics. Part A, 2014
A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.
Suwanai AS et al.
Clinical Endocrinology, 2013
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