TP63-truncating variants cause isolated premature ovarian insufficiency

Elena J Tucker (1) , Sylvie Jaillard (2, 3) , Sonia R Grover (4, 1) , Jocelyn van den Bergen (1) , Gorjana Robevska (1) , Katrina M Bell (1) , Simon Sadedin (1) , Chloe Hanna (1) , Jérôme Dulon (5) , Philippe Touraine (6) , Andrew H Sinclair (1)

1 MCRI - Murdoch Children's Research Institute
2 Irset - Institut de recherche en santé, environnement et travail
3 CHU Pontchaillou [Rennes]
4 University of Melbourne
5 Hôpital Raymond Poincaré [AP-HP]
6 Centre des Pathologies gynécologiques Rares [CHU Pitié-Salpêtrière]

Keywords: PREPL; POI cohort; premature ovarian insufficiency; whole-exome sequencing; ovarian dysgenesis; TP63

Domains: Life Sciences [q-bio]

Elena J Tucker, Sylvie Jaillard, Sonia R Grover, Jocelyn van den Bergen, Gorjana Robevska, et al.. TP63-truncating variants cause isolated premature ovarian insufficiency. Human Mutation, 2019, 40 (7), pp.886-892. ⟨10.1002/humu.23744⟩. ⟨hal-02091226⟩