Article
Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Genetic testing and molecular biomarkers - 1 Apr 2009
Li Dongmei, Zeng Wotan, Tao Jing, Li Shentao, Liang Chen, Chen Xiaojun, Mu Weihua, Wang Xiaohong, Qin Yi, Jie Ying, Wei Wenbin
Abstract excerpt
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant syndrome of eyelid malformations with (type I) or without (type II) associated premature ovarian failure. Multiple mutations in the exon and the putative core promoter region of FOXL2 gene encoding a putative forkhead transcription factor have been linked to this disease. To examine whether FOXL2 gene mutations contribute to BPES...
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