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amaurosis
(phenotype)
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Genetic Markers
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Analysis of RPE65 loss of function in mouse retina
OMIM - Eye Related Disorders
OMIM - Leber congenital amaurosis
Retinas from CRX mutant mice with Leber congenital amaurosis phenotype
Mouse Phenotypes - Congenital disorder
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Literature
Most Relevant Literature
Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CC…
Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated L…
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a …
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive…
Ablation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of C…
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Clinical Trials
Most Relevant Clinical Trials
Safety Study in Subjects With Leber Congenital Amaurosis
A Safety and Efficacy Study of HG004 in Subjects With Leber Congenital Amaurosis
Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
Study of Subretinally Injected SAR439483 Administered in Patients With Leber Congenital Amaurosis Ca…
Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
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