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Aniridia

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Related literature

[Clinical features and genetic analysis for PAX6-associated ocular diseases].
Aniridia
Congenital aniridia: European COST action ANIRIDIA-NET guidelines for diagnosis, management and care.
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Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.
Aniridia
A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies.
Aniridia
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.
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Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.
Aniridia
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.
Aniridia
Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.
Aniridia
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Aniridia
Reduction of lens size in PAX6-related aniridia.
Aniridia

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