Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as
Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without …

Mutations within the CRB1 gene have been shown to cause human retinal diseases
including retinitis pigmentosa and Leber congenital amaurosis. We have recently identified …

Understanding phenotype–genotype correlations in retinal degeneration is a major
challenge. Mutations in CRB1 lead to a spectrum of autosomal recessive retinal dystrophies …

In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of
autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The severity of …

Mutations in the CRB1 gene lead to retinal dystrophies ranging from Leber congenital
amaurosis (LCA) to early-onset retinitis pigmentosa (RP), due to developmental defects or …

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded
proteins are involved in a broad spectrum of pathways. The presence of unsolved families …

The CRB1 gene plays a role in retinal development and its maintenance. When disrupted, it
gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital …

Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal
dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (eg …

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are inherited degenerative
retinal dystrophies with vision loss that ultimately lead to blindness. Several genes have …

Mutations in the CRB1 gene cause severe retinal degenerations, which may present as
Leber congenital amaurosis, early onset retinal dystrophy, retinitis pigmentosa, or cone-rod …