Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study

Mutations in <i>NR5A1</i> Associated with Ovarian Insufficiency

Diana Lourenço, Raja Brauner, Lin Lin et al. · New England Journal of Medicine · 2009 · 389 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

John C. Achermann, Masafumi Ito, Utku Arman Örün et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 296 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

Birgit Köhler, Lin Lin, Inas Mazen et al. · European Journal of Endocrinology · 2009 · 122 citations · Full text

Medicine, Endocrinology, Genetics +17

A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure

Toshihiro Tajima, Fumie Fujiwara, Kenji Fujieda · Endocrine Journal · 2009 · 31 citations · Full text

Medicine, Endocrinology, Genetics +17