Article
A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.
Mutation research - 4 Oct 2004
Qian Xueqing, Shu Anli, Qin Wei, Xing Qinghe, Gao Jianjun, Yang Jiandong, Feng Guoyin, He Lin
Abstract excerpt
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene. In this work, we reveal a novel insertion mutation in the 3'UTR of the FOXL2 gene in a big Chinese family which is to our...
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