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Article

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

1 Jan 2021

Abstract excerpt

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 sequencing in available family members were performed to screen potential pathogenic variants. Results . Novel...

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PMID: 34457359
DOI: 10.1155/2021/6684045

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