Associated Papers
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
den Hollander AI et al.
American Journal of Human Genetics, 2001
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