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

Martinez-Aguayo, Alejandro; Poggi, Helena; Cattani, Andreina; Molina, Marcela; Romeo, Eliana; Lagos, Marcela

doi:10.1515/jpem-2013-0219

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

Atıf İçin Kopyala

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-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 27
Basım Tarihi: 2014
Doi Numarası: 10.1515/jpem-2013-0219
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.181-184
Çukurova Üniversitesi Adresli: Hayır

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.