Associated Papers
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
Hattori A et al.
Human Genome Variation, 2017
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
Woo KH et al.
Hormone Research in Paediatrics, 2015
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