Blepharophimosis-ptosis-epicanthus inversus syndrome
Carla Graziadio
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorFelipe Nora de Moraes
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Search for more papers by this authorRafael Fabiano Machado Rosa
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorCorresponding Author
Paulo Ricardo Gazzola Zen
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Paulo Ricardo Gazzola Zen, MD PhD, Genética Clínica – UFCSPA/CHSCPA, Rua Sarmento Leite, 245/403, CEP: 90050-170 Porto Alegre, RS, Brazil. Email: [email protected]Search for more papers by this authorGiovanni Marcos Travi
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorCarolina Waldman
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorCristina Touguinha Neves Medina
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorGiorgio Adriano Paskulin
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorCarla Graziadio
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorFelipe Nora de Moraes
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Search for more papers by this authorRafael Fabiano Machado Rosa
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorCorresponding Author
Paulo Ricardo Gazzola Zen
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Paulo Ricardo Gazzola Zen, MD PhD, Genética Clínica – UFCSPA/CHSCPA, Rua Sarmento Leite, 245/403, CEP: 90050-170 Porto Alegre, RS, Brazil. Email: [email protected]Search for more papers by this authorGiovanni Marcos Travi
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorCarolina Waldman
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorCristina Touguinha Neves Medina
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this authorGiorgio Adriano Paskulin
Federal University of Health Sciences of Porto Alegre (UFCSPA)
Santa Casa de Porto Alegre Hospital Complex (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil
Search for more papers by this author
References
- 1 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: http://www.ncbi.nlm.nih.gov/omim.
- 2 Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J. Med. Genet. 1988; 25: 47–51.
- 3 De Baere E, Beysen D, Oley C et al. FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am. J. Hum. Genet. 2003; 72: 478–87.
- 4 Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum. Mutat. 2009; 30: 158–69.
- 5 Crisponi L, Deiana M, Loi A et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet. 2001; 27: 159–66.
- 6 De Baere E, Dixon MJ, Small KW et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum. Mol. Genet. 2001; 10: 1591–600.
- 7 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.
- 8 Allen CE, Rubin PAD. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) clinical manifestation and treatment. Int. Ophthalmol. Clin. 2008; 48: 15–23.
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