Article
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Journal of human genetics - 1 Nov 2018
Matías-Pérez Diana, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, García-Montalvo Iván A, Nava-Valdéz Jessica, Barragán-Arevalo Tania, Villanueva-Mendoza Cristina, Villarroel Camilo E, Guadarrama-Vallejo Clavel, la Cruz Rocío Villafuerte-de, Chacón-Camacho Oscar, Zenteno Juan C
Abstract excerpt
Severe congenital eye malformations, particularly microphthalmia and anophthalmia, are one of the main causes of visual handicap worldwide. They can arise from multifactorial, chromosomal, or monogenic factors and can be associated with extensive clinical variability. Genetic analysis of individuals with these defects has allowed the recognition of dozens of genes whose mutations lead to disruption of normal...
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