Associated Papers
Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features.
Luppino G et al.
Current Issues in Molecular Biology, 2024
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Gomes NL et al.
Clinical Endocrinology, 2018
Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations.
Song Y et al.
Frontiers in Pharmacology, 2018
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2016
Inhibin alpha-subunit (INHA) expression in adrenocortical cancer is linked to genetic and epigenetic INHA promoter variation.
Hofland J et al.
Plos One, 2014
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