Associated Papers
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2020
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW et al.
Nature Genetics, 2012
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
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