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., ...Daha Fazla

GENETICS IN MEDICINE, cilt.20, sa.7, ss.717-727, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 20 Sayı: 7
Basım Tarihi: 2018
Doi Numarası: 10.1038/gim.2017.163
Dergi Adı: GENETICS IN MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.717-727
Anahtar Kelimeler: 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
Marmara Üniversitesi Adresli: Evet

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.