Associated Papers
Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features.
Luppino G et al.
Current Issues in Molecular Biology, 2024
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
Teoli J et al.
Frontiers in Endocrinology, 2023
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