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Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.
Aaron Z Priluck
Mark Philip Breazzano
Published in:
Ophthalmic genetics (2022)
gene leading to non-syndromic adult-onset macular dystrophy.
Keyphrases
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optical coherence tomography
intellectual disability
diabetic retinopathy
early onset
cataract surgery
age related macular degeneration
autism spectrum disorder
copy number
genome wide
genome wide identification
dna methylation
solid state
genome wide analysis