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A nonsense PAX6 mutation in a family with congenital aniridia

Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong

Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4. Published online November 30, 2016

Crossref 1

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S1

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