Associated Papers
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
Pubertal development in 46,XY patients with NR5A1 mutations.
Mönig I et al.
Endocrine, 2022
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
Askari M et al.
Andrologia, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.
Yu B et al.
Clinical Endocrinology, 2018
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
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R et al.
Plos One, 2017
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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