Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.


Kırkgöz T., Gürsoy S., Acar S., Köprülü Ö., Özkaya B., Arslan G., ...More

Journal of pediatric endocrinology & metabolism : JPEM, vol.37, no.6, pp.575-579, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 6
  • Publication Date: 2024
  • Doi Number: 10.1515/jpem-2023-0551
  • Journal Name: Journal of pediatric endocrinology & metabolism : JPEM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, MEDLINE
  • Page Numbers: pp.575-579
  • Keywords: ambiguous genitalia, DSD 46 XY, hyposplenism
  • Dokuz Eylül University Affiliated: Yes