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Article

A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Journal of assisted reproduction and genetics - 1 Jan 2020

Hu Jingmei, Ke Hanni, Luo Wei, Yang Yajuan, Liu Hongli, Li Guangyu, Qin Yingying, Ma Jinlong, Zhao Shidou

Abstract excerpt

BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare, autosomal dominant disease. There are two clinical types of BPES: type I patients have eyelid abnormalities accompanied by infertility in affected females, while type II patients only display eyelid malformations. Previous studies have reported that the forkhead box L2 (FOXL2) gene mutations cause BPES. PURPOSE: To identify...

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Identifiers

PMID: 31823134
DOI: 10.1007/s10815-019-01651-2
PMCID: PMC7000634

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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