Article
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.
Ophthalmic plastic and reconstructive surgery - 1 Jan 2000
Zuazo Francisca, Astiazaran Mirena C, Rodríguez-Cabrera Lourdes, Garcia-Regil Patricia, Chacon-Camacho Oscar, Tovilla-Canales José L, Zenteno Juan C
Abstract excerpt
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation...
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