A nonsense mutation in a family with congenital aniridia

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 repo...

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Bibliographic Details
Main Authors: Kyoung Hee Han (Author), Hye Jin Lee (Author), Il-Soo Ha (Author), Hee Gyung Kang (Author), Hae Il Cheong (Author)
Format: Book
Published: Korean Pediatric Society, 2016-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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