A Congenital Diaphragmatic Hernia and 46,XX Disorder of Sex Development Caused by a WT1 Pathogenic Variant
WT1 is an important gene in gonadal differentiation process, especially in the male differenciation. It is known in some syndromic and non-syndromic pathology. This gene is associated with under-virilization in 46,XY patient. Here we report a 46,XX case presenting with external genital virilization, diaphragmatic hernia and wilms tumor. A screening on a Next Generation Sequencing […]