Article
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2018
Baetens Dorien, Güran Tülay, Mendonca Berenice B, Gomes Nathalia L, De Cauwer Lode, Peelman Frank, Verdin Hannah, Vuylsteke Marnik, Van der Linden Malaïka, Atay Zeynep, Bereket Abdullah, de Krijger Ronald R, Preter Katleen de, Domenice Sorahia, Turan Serap, Stoop Hans, Looijenga Leendert H, De Bosscher Karolien, Cools Martine, De Baere Elfride
Abstract excerpt
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...
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