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Paper Details

Retinal dystrophies: A look beyond the eyes.
Am J Ophthalmol Case Rep
1
2022
Alstrom syndrome, Arg679Ter, Bardet, Bardet Biedl syndrome, Biedl syndrome, Gln2176Serfs, His179Arg, Refsum disease, Retinal dystrophies, anosmia, c, c.2035C, c.389_390del, c.536A, c.6525dupT, central obesity, ciliopathy, fatty acids, hearing loss, neurocognitive deficits, obesity, phytanic acid, polydactyly, pristanic acid, retinal dystrophies, retinal dystrophy, retinitis pigmentosa, sensorineural hearing loss, short stature, shortened metatarsals and digits, systemic disorders, vision loss
Author NameAffiliation
Glenn YiuUC Davis Medical Center
Ala MoshiriUC Davis Medical Center
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Datasets

Release 1.2