Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families
Alexandre Rouen, Eli Rogers, V. Kerlan, Brigitte Delemer, Sophie Catteau-Jonard, Yves Reznik, Anne Gompel, Isabelle Cédrin, A.M. Guedj, Virginie Grouthier, Thierry Brue, Catherine Pienkowski, Anne Bachelot, Sandra Chantot‐Bastaraud, Alexandra Rousseau, Tabassome Simon, Esther Kott, Jean‐Pierre Siffroi, Philippe Touraine, Sophie Christin‐Maître
Topics & Concepts
Exome sequencingCohortPremature ovarian insufficiencyMedicineGeneticsExomeBiologyPediatricsInternal medicineMutationGeneGenomics and Rare DiseasesBRCA gene mutations in cancerOvarian function and disorders