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

Author： Fan Jiayan   Zhou Yixiong   Huang Xiaolin   Zhang Leilei   Yao Yuting   Song Xin   Chen Junzhao   Hu Jifan   Ge Shengfang   Song Huaidong   Fan Xianqun  

Publisher： Oxford University Press

ISSN： 1460-2350

Source： Human Reproduction, Vol.27, Iss.11, 2012-11, pp. : 3347-3357

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