Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.
Ophthalmic genetics(2023)
摘要
To authors' knowledge, this report is first description of this combination of mutations in the gene leading to non-syndromic adult-onset macular dystrophy.
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关键词
Inherited retinal degeneration,MFSD8,mutation,non-syndromic macular dystrophy,variant
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