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Volumn 53, Issue 3, 2011, Pages 390-392

Blepharophimosis-ptosis-epicanthus inversus syndrome

Author keywords

blepharophimosis; epicanthus inversus; FOXL2 gene; genetic counseling; ptosis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CASE REPORT; EPICANTHUS; EYE MALFORMATION; EYE SURGERY; FAMILY HISTORY; FEMALE; FOXL 2 GENE; GENE; GENE MUTATION; HUMAN; INFANT; PLASTIC SURGERY; PRIORITY JOURNAL; PTOSIS; TELECANTHUS;

EID: 79959692837     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2010.03223.x     Document Type: Article
Times cited : (4)

References (8)
  • 1
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    • OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Baltimore, MD). [Accessed 1 March 2010.] Available from URL.
    • Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Baltimore, MD). 2006. [Accessed 1 March 2010.] Available from URL:.
    • (2006) Online Mendelian Inheritance in Man
  • 2
    • 0023875626 scopus 로고
    • Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
    • Oley C, Baraitser M,. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J. Med. Genet. 1988; 25: 47-51. (Pubitemid 18042303)
    • (1988) Journal of Medical Genetics , vol.25 , Issue.1 , pp. 47-51
    • Oley, C.1    Baraitser, M.2
  • 4
    • 59749101082 scopus 로고    scopus 로고
    • FOXL2 mutations and genomic rearrangements in BPES
    • Beysen D, De Paepe A, De Baere E,. FOXL2 mutations and genomic rearrangements in BPES. Hum. Mutat. 2009; 30: 158-69.
    • (2009) Hum. Mutat. , vol.30 , pp. 158-169
    • Beysen, D.1    De Paepe, A.2    De Baere, E.3
  • 7
    • 34147168802 scopus 로고    scopus 로고
    • Blepharophimosis-ptosis-epicanthus inversus syndrome: Objective analysis of surgical outcome in patients from a single unit
    • DOI 10.1111/j.1442-9071.2006.01448.x
    • Taylor A, Strike PW, Tyers AG,. Blepharophimosis-ptosis-epicanthus inversus syndrome: Objective analysis of surgical outcome in patients from a single unit. Clin. Experiment. Ophthalmol. 2007; 35: 262-9. (Pubitemid 46563485)
    • (2007) Clinical and Experimental Ophthalmology , vol.35 , Issue.3 , pp. 262-269
    • Taylor, A.1    Strike, P.W.2    Tyers, A.G.3
  • 8
    • 42449162416 scopus 로고    scopus 로고
    • Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): Clinical manifestation and treatment
    • DOI 10.1097/IIO.0b013e3181694eee, PII 0000439720080482000005
    • Allen CE, Rubin PAD,. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) clinical manifestation and treatment. Int. Ophthalmol. Clin. 2008; 48: 15-23. (Pubitemid 351572185)
    • (2008) International Ophthalmology Clinics , vol.48 , Issue.2 , pp. 15-23
    • Allen, C.E.1    Rubin, P.A.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.