[HTML][HTML] Biallelic and monoallelic ESR2 variants associated with 46, XY disorders of sex development
D Baetens, T Güran, BB Mendonca, NL Gomes… - Genetics in …, 2018 - Elsevier
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. Methods Homozygosity mapping and
whole-exome sequencing revealed an ESR2 variant in an individual with syndromic 46, XY
DSD. Additional cases with 46, XY DSD underwent whole-exome sequencing and targeted
next-generation sequencing of ESR2. Functional characterization of the identified variants …
characterized by atypical sex development. Despite advances in genomic technologies, the
molecular cause remains unknown in 50% of cases. Methods Homozygosity mapping and
whole-exome sequencing revealed an ESR2 variant in an individual with syndromic 46, XY
DSD. Additional cases with 46, XY DSD underwent whole-exome sequencing and targeted
next-generation sequencing of ESR2. Functional characterization of the identified variants …