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The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.
Fan J, Zhou Y, Huang X, Zhang L, Yao Y, Song X, Chen J, Hu J, Ge S, Song H, Fan X. Fan J, et al. Among authors: chen j. Hum Reprod. 2012 Nov;27(11):3347-57. doi: 10.1093/humrep/des306. Epub 2012 Aug 27. Hum Reprod. 2012. PMID: 22926839
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