Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

Purpose. To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. Methods. Ophthalmic examinations were performed, and genomic DNA was extracted from available family members. Whole exome sequencing of two members (the proband and her unaffected mother) and Sanger...

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Bibliographic Details
Main Authors: Qin Xiang, Yanna Cao, Hongbo Xu, Zhijian Yang, Liang Tang, Ju Xiang, Jianming Li, Hao Deng, Lamei Yuan
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Journal of Ophthalmology
Online Access:http://dx.doi.org/10.1155/2021/6684045
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