Associated Papers
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L et al.
American Journal of Medical Genetics. Part A, 2014
NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development.
Bertelloni S et al.
Hormone Research in Paediatrics, 2014
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