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A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family

AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia. METHODS: Eleven family members with and without atypical aniridia were recruited. All family members...

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Main Authors: Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen
Format: Artigo
Language:Inglês
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2024-03-01
Series:International Journal of Ophthalmology
Subjects:
pax6 gene
atypical aniridia
missense mutation
mutation
Online Access:http://ies.ijo.cn/en_publish/2024/3/20240307.pdf
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