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

Baetens, Dorien; Güran, Tülay; Mendonca, Berenice; Gomes, Nathalia; De Cauwer, Lode; Peelman, Frank; Verdin, Hannah; Vuylsteke, Marnik; Van Der Linden, Malaïka; Atay, Zeynep; Bereket, ABDULLAH; De Krijger, Ronald; De Preter, Katleen; Domenice, Sorahia; Turan, SERAP; Stoop, Hans; Looijenga, Leendert; De Bosscher, Karolien; Cools, Martine; De Baere, Elfride

doi:10.1038/gim.2017.163

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

Atıf İçin Kopyala

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)

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.