Genetic & Genomic MedicinemedRxivPreprint
Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis
Ana Paula Santos, Jakob A. Meinel, Cristiane S.C. Piveta…·Ralf Werner
The paper shows that structural variations at Xp21.2 disrupt a TAD boundary, leading to gonadal dysgenesis through altered gene regulation.