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A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia
Genetic Testing and Molecular Biomarkers, 2019Bo Gong, Chen Yang
exaly
Congenital aniridia& traumatic aniridia: diagnosis, monitoring and management.
Congenital aniridia is a rare genetic disorder characterized by hypoplasia or absence of the iris, reduced visual acuity, and nystagmus secondary to foveal hypoplasia. Aniridia occurs in approximately 1.8 per 100,000 live births. About two-thirds of cases are inherited in an autosomal dominant pattern (familial cases, in which one of the parents is ...openaire
Standardized Assessment of Health-Related Quality of Life in Patients with Congenital Aniridia
Klinische Monatsblatter Fur AugenheilkundeTanja Stachon +2 more
exaly