FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

Clinical Chemistry and Laboratory Medicine

Volumn 48, Issue 4, 2010, Pages 485-488

  Lin, Wei De ^a,b   Chou, I Ching ^a   Lee, Ni Chung ^c   Wang, Chung Hsing ^a   Hwu, Wuh Liang ^c   Lin, Shuan Pei ^d   Chao, Mei Chyn ^f   Tsai, Yushin ^b   Tsai, Fuu Jen ^a,e  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^d MACKAY MEMORIAL HOSPITAL   (Taiwan)

^e ASIA UNIVERSITY   (Taiwan)

^f KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Blepharophimosis; Epicanthus inversus syndrome (BPES); FOXL2; Gene mutation; Ptosis

Indexed keywords

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

ADOLESCENT; ARTICLE; BLEPHAROPHIMOSIS; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; DNA DETERMINATION; EPICANTHUS INVERSUS SYNDROME; EYELID DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; KARYOTYPE; LEUKOCYTE; MOLECULAR CLONING; NONSENSE MUTATION; PERIPHERAL VEIN; PREMATURE OVARIAN FAILURE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PTOSIS; SCHOOL CHILD; TAIWAN;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHILD; CHILD, PRESCHOOL; EYELIDS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; KARYOTYPING; MALE; MUTATION; SEQUENCE ANALYSIS, DNA; SYNDROME; TAIWAN;

EID: 77949870921     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2010.100     Document Type: Article

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