Associated Papers
Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.
Abseyi SN et al.
Journal of Endocrinological Investigation, 2025
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.
Rocca MS et al.
Fertility and Sterility, 2018
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2
Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.
Shi JW et al.
Asian Journal of Andrology, 0
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