Associated Papers
The Specific Pathogenicity Pattern of the Different CRB1 Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies.
Siles L et al.
International Journal of Molecular Sciences, 2025
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
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Corton M et al.
Orphanet Journal of Rare Diseases, 2013
23379534 (PubMed )
Supplement: 1750-1172-8-20-S2.pdf
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E et al.
Investigative Ophthalmology & Visual Science, 2007
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