Article
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.
Molecular medicine reports - 1 Oct 2017
Yang Lin, Li Tuo, Xing Yiqiao
Abstract excerpt
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease, which has been divided into two types according to whether it involves premature ovarian failure (POF). Mutations in forkhead box L2 (FOXL2) have been identified in the majority of patients with BPES. The present study aimed to identify the causative mutation in FOXL2 in a Chinese family with both types of BPES....
Topics
Join the communities discussing this publication.