Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait
Sandrine Caburet, Abdelkader Heddar, Elodie Dardillac, Héléne Creux, Marie Lambert, Sébastien Messiaen, Sophie Tourpin, Gabriel Livera, Bernard S Lopez, Micheline Misrahi
Journal of Medical Genetics Feb 2021, 58 (2) 125-134; DOI: 10.1136/jmedgenet-2019-106672