Associated Papers
Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.
Fouatih K et al.
Endocrine Connections, 2025
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.
Kumar S et al.
Annales D'endocrinologie, 2025
Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features.
Luppino G et al.
Current Issues in Molecular Biology, 2024
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Cools M et al.
European Journal of Endocrinology, 2024
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.
Colson C et al.
Clinical Genetics, 2017
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