Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Baetens D., Güran T. , Mendonca B. B. , Gomes N. L. , De Cauwer L., Peelman F., ...More

GENETICS IN MEDICINE, vol.20, no.7, pp.717-727, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 7
  • Publication Date: 2018
  • Doi Number: 10.1038/gim.2017.163
  • Title of Journal : GENETICS IN MEDICINE
  • Page Numbers: pp.717-727
  • Keywords: 46,XY DSD, disorders of sex development, ESR2 variants, novel candidate gene, whole-exome sequencing, ESTROGEN-RECEPTOR BETA, CRYSTAL-STRUCTURE, BINDING DOMAIN, HYPOSPADIAS, MUTATIONS, GENES, POLYMORPHISMS, COMPLEXES, PATHWAYS, RISK


Purpose: Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.