A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome

Chinese Journal of Medical Genetics

Volumn 22, Issue 4, 2005, Pages 372-375

  Li, Wu Xiu ^a   Wang, Xiao Ke ^a   Sun, Yan ^a   Wang, Yan Li ^a   Lin, Li Xin ^a   Tang, Sheng Jian ^a  

^a WEIFANG MEDICAL UNIVERSITY   (China)

Author keywords

Blepharophimosis, ptosis, and epicanthus inversus syndrome; FOXL2 gene; Mutation; Polymerase chain reaction

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR 2; GENOMIC DNA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FOXL2 GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; INTERNET; PATHOGENESIS; POLYMERASE CHAIN REACTION; PTOSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHINA; EYELID DISEASES; FAMILY HEALTH; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 23844466221     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

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