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

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• 来源
  《Human Reproduction》 |2012年第11期|p.3347-3357|共11页
• 作者

  Jiayan Fan12 Yixiong Zhou1 Xiaolin Huang1 Leilei Zhang1 Yuting Yao1 Xin Song1 Junzhao Chen1 Jifan Hu2 Shengfang Ge1 Huaidong Song3 and Xianqun Fan1*;

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• 作者单位

  1Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, NO.639 Zhi Zao Ju Road, Shanghai 200011, P. R. China 2VA Palo Alto Health Care System, Stanford University Medical School, Palo Alto, CA, USA 3State Key Laboratory of Medical Genomics, Molecular Medical Center, Shanghai Institute of Endocrinology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P. R. China;

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