Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Or
Siu-fong June
SF
Clinical Genetic Service, Department of Health, Hong Kong SAR, China.
Tong
Ming-for Tony
MF
Lo
Fai-man Ivan
FM
Lam
Tak-sum Stephen
TS
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D013577:Syndrome
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors