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

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)

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

Abstract

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.