Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

Chinese Medical Journal

Volumn 119, Issue 1, 2006, Pages 49-52

  Or, Siu Fong June ^a   Tong, Ming For Tony ^a   Lo, Fai Man Ivan ^a   Lam, Tak Sum Stephen ^a  

^a DEPARTMENT OF HEALTH   (Hong Kong)

Author keywords

Blepharophimosis ptosis epicanthus inversus syndrome; FOXL2 gene mutation; Multiplex ligation dependent probe amplification

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR FKHR; FORKHEAD TRANSCRIPTION FACTOR; FOXL2 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; CASE REPORT; CHINESE; CHROMOSOME 3Q; CHROMOSOME MAP; EYE DISEASE; EYELID; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MISSENSE MUTATION; OVARY DEVELOPMENT; PTOSIS; SYNDROME; TELECANTHUS; AMINO ACID SEQUENCE; CONGENITAL MALFORMATION; GENETICS; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; EYELIDS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME;

EID: 33644972214     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.1097/00029330-200601010-00009     Document Type: Article

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