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., ...Daha Fazla

GENETICS IN MEDICINE, cilt.20, sa.7, ss.717-727, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Konu: 7
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1038/gim.2017.163
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayıları: ss.717-727

Özet

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.