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pro vyhledávání: '"Carolina Arroyo Díaz"'
Autor:
C. González-González, Carolina Arroyo Díaz, Fernando Sánchez-Escribano, Maria Garcia-Hoyos, Isabel Lorda Sánchez, Cristina González Fanego, Rosario Hernaez Calzón
Publikováno v:
Ophthalmic Genetics. 33:107-110
Background: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a “de