Article
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
American journal of human genetics - 1 Jul 2001
den Hollander A I, Heckenlively J R, van den Born L I, de Kok Y J, van der Velde-Visser S D, Kellner U, Jurklies B, van Schooneveld M J, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg J R, Deutman A F, Brunner H G, Apfelstedt-Sylla E, Hoyng C B, Cremers F P
Abstract excerpt
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 epithelium (PPRPE) and by severe loss of vision at age <20 years. Because of the early onset of disease in patients who have RP with PPRPE, we considered CRB1 to be a good candidate gene for Leber congenital amaurosis...
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