Associated Papers
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.
Priluck AZ et al.
Ophthalmic Genetics, 2023
Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy.
Xiang Q et al.
Journal of Ophthalmology, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
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