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36 ensaios clínicos encontrados, 15 ativos.
[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies].
[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies].
A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.
A novel CRB1 variant presenting as Leber congenital amaurosis-8 with angle-closure glaucoma in a Chinese family.
📖 RevisãoEstablishment of an induced pluripotent stem cell line from a patient with Leber Congenital Amaurosis.