Una mirada al albinismo óculo-cutáneo: reporte de mutaciones en el gen TYR en cinco individuos colombianos

Una mirada al albinismo óculo-cutáneo: reporte de mutaciones en el gen TYR en cinco individuos colombianos

Introducción. El albinismo óculo-cutáneo es un trastorno hereditario autosómico recesivo relacionado con la pigmentación. Sus manifestaciones clínicas incluyen hipopigmentación en piel, cabello y ojos, hipoplasia en la fóvea y disminución de la agudeza visual. A nivel mundial, hasta el momento, se h...

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Bibliographic Details
Main Authors:	Diana Sanabria, Helena Groot, Julio Guzmán, María Claudia Lattig
Format:	Article
Language:	English
Published:	Instituto Nacional de Salud 2012-06-01
Series:	Biomédica: revista del Instituto Nacional de Salud
Subjects:	Albinism , oculocutaneus monofenol monooxigenasa mutation contact lenses Colombia
Online Access:	http://www.revistabiomedica.org/index.php/biomedica/article/view/638

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