GENETICS IN MEDICINE, vol.20, no.7, pp.717-727, 2018 (Journal Indexed in SCI)
Article / Article
Title of Journal :
GENETICS IN MEDICINE
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.