Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
Hereditary eye disease: Looking for blindness in the family tree In-depth genomic analysis of the family of a young man with severe visual impairment reveals a new gene involved in eye development. Ocular coloboma encompasses various hereditary disorders in which the eyes form improperly. Many of th...
Main Authors: | Xiu-Feng Huang, Lue Xiang, Wan Cheng, Fei-Fei Cheng, Kai-Wen He, Bo-Wen Zhang, Si-Si Zheng, Ru-Yi Han, Yi-Han Zheng, Xiao-Tao Xu, Huan-Yun Yu, Wenjuan Zhuang, Yuk Fai Leung, Zi-Bing Jin |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2018-04-01
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Series: | Experimental and Molecular Medicine |
Online Access: | https://doi.org/10.1038/s12276-018-0079-0 |
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