A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis–ptosis–epicanthus inversus syndrome

Settas, Nikolaos MSc^1,2; Anapliotou, Margarita MD, PhD³; Kanavakis, Emmanuel MD, PhD²; Fryssira, Helen MD, PhD²; Sofocleous, Christalena PhD^2,4; Dacou-Voutetakis, Catherine MD, PhD¹; Chrousos, George P. MD, PhD¹; Voutetakis, Antonis MD, PhD¹