Nmnat1 Mutations Cause Leber Congenital Amaurosis at Quyen Elliott blog

Nmnat1 Mutations Cause Leber Congenital Amaurosis. Leber congenital amaurosis (lca) is a blinding retinal disease that presents within the first year after birth. Leber congenital amaurosis (lca) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. Leber congenital amaurosis (lca) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Here we report that compound heterozygous and homozygous nmnat1 mutations cause severe neonatal. Rui chen and colleagues identify mutations in nmnat1 as a new cause of leber congenital amaurosis. Here we report that compound heterozygous and homozygous nmnat1 mutations cause severe neonatal neurodegeneration of the central retina.

Figure 1 from A novel missense NMNAT1 mutation identified in a
from www.semanticscholar.org

Rui chen and colleagues identify mutations in nmnat1 as a new cause of leber congenital amaurosis. Here we report that compound heterozygous and homozygous nmnat1 mutations cause severe neonatal. Leber congenital amaurosis (lca) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. Leber congenital amaurosis (lca) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Here we report that compound heterozygous and homozygous nmnat1 mutations cause severe neonatal neurodegeneration of the central retina. Leber congenital amaurosis (lca) is a blinding retinal disease that presents within the first year after birth.

Figure 1 from A novel missense NMNAT1 mutation identified in a

Nmnat1 Mutations Cause Leber Congenital Amaurosis Leber congenital amaurosis (lca) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. Rui chen and colleagues identify mutations in nmnat1 as a new cause of leber congenital amaurosis. Here we report that compound heterozygous and homozygous nmnat1 mutations cause severe neonatal. Leber congenital amaurosis (lca) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. Leber congenital amaurosis (lca) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Leber congenital amaurosis (lca) is a blinding retinal disease that presents within the first year after birth. Here we report that compound heterozygous and homozygous nmnat1 mutations cause severe neonatal neurodegeneration of the central retina.

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