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Genes relacionados con microftalmia y anoftalmia hereditarias.

作者信息

Matías-Pérez Diana, García-Montalvo Iván Antonio, Zenteno Juan Carlos

机构信息

Unidad de Bioquímica e Inmunología ITO-UNAM; México.

Centro de Investigación UNAM-UABJO. Oaxaca, Oax.; México.

出版信息

Gac Med Mex. 2017;153(7):824-829. doi: 10.24875/GMM.17002604.

Abstract

Congenital eye malformations are the second most common cause of childhood blindness and are originated by disruption of the normal process of eye development during embryonic stage. Their etiology is variable, although monogenic causes are of great importance as they have a high risk of familial recurrence. Included among the most severe congenital eye abnormalities are microphthalmia, defined by an abnormally small eye, and anophthalmia, characterized by congenital absence of ocular structures. The currrent knowledge of the genes involved in human microphthalmia and anophthalmia in humans is revised in this work.

摘要

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