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PedAM

Pediatric Disease Annotations & Medicines




Disease cataract
Phenotype C0010036|corneal dystrophy
Sentences 3
PubMedID- 21217896 [40] this gene, situated at 11p13, has been implicated in a heterogeneous group of anterior segment anomalies, including peter’s anomaly, autosomal dominant keratitis, congenital cataract with late onset corneal dystrophy, isolated foveal hypoplasia and aniridia.
PubMedID- 24349436 To data, over 300 mutations of the pax6 gene caused different disease phenotypes through gain-of-function or loss-of-function, such as aniridia (omim 106210), cataract with late-onset corneal dystrophy (omim 106210), ocular coloboma (omim 120200), coloboma of optic nerve (omim 120430), morning glory disc anomaly (omim 120430), foveal hyperplasia (omim 136520), gillespie syndrome (omim 206700), peters’ anomaly (omim 604229), keratitis (omim 148190) and optic nerve hypoplasia (omim 165550) [3].
PubMedID- 24289914 cataract surgery in patients with fuchs' endothelial corneal dystrophy: when to consider a triple procedure.

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