A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I


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) identifier identifier identifier

  • Cilt numarası: 27
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1515/jpem-2013-0219
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.181-184

Özet

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.