L. Ingeborgh van den Born

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...

Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...

Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E. J., ...

Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for ∼45% of LCA cases. We localized...