Martinez-Aguayo A., Poggi H., Cattani A., Molina M., Romeo E., Lagos M.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.27, ss.181-184, 2014 (SCI İndekslerine Giren Dergi)
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Objective: A novel insertion in the forkhead transcription factor 2 (FOXL2) was identified in a Chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (BPES type I). A clinical and molecular characterization of a patient with BPES type I was performed.