title: A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.
authors.affiliation: Institute of Nutrition Science, SIBS, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai 200031, PR China.
authors.forename: Xueqing
authors.initials: X
authors.lastname: Qian
authors.forename: Anli
authors.initials: A
authors.lastname: Shu
authors.forename: Wei
authors.initials: W
authors.lastname: Qin
authors.forename: Qinghe
authors.initials: Q
authors.lastname: Xing
authors.forename: Jianjun
authors.initials: J
authors.lastname: Gao
authors.forename: Jiandong
authors.initials: J
authors.lastname: Yang
authors.forename: Guoyin
authors.initials: G
authors.lastname: Feng
authors.forename: Lin
authors.initials: L
authors.lastname: He
mesh_terms: D001483:Base Sequence; D002681:China; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005141:Eyelid Diseases / Q000235:genetics*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014157:Transcription Factors