Functional genomics analysis identifies impairment of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Ella Thomson, Minh Tran, Gorjana Robevska, Katie L. Ayers, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash‐Margita, Miranda Margetts, Alison Hensley, Quan Hoang Nguyen, Andrew Henrik Sinclair, Peter A. Koopman, Emanuele Pelosi
The paper identifies HNF1B dysfunction as a cause of Mayer-Rokitansky-Küster-Hauser syndrome using genomic analysis and mouse models.
bioRxiv · Apr 26, 2022 · PreprintDevelopmental Biology