Associated Papers
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
38168586 (PubMed )
Supplement: mmc1.pdf
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.
Zheng GY et al.
Journal of Endocrinological Investigation, 2023
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
Buonocore F et al.
Journal of the Endocrine Society, 2019
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