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Leber congenital amaurosis 3
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- ... Registry: Leber congenital amaurosis 2 Genetic Testing Registry: Leber congenital amaurosis 3 Genetic Testing Registry: Leber congenital amaurosis 4 Genetic ...
- ... Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol. 2001 Mar;119(3):415-20. doi: 10.1001/archopht.119.3. ...
- ... CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 ...
- ... effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Citation on PubMed ...
- ... This Health Condition MedlinePlus Genetics provides information about Leber congenital amaurosis More About This Health ... of CRX PubMed CONE-ROD HOMEOBOX- ...
- ... RPGR and calmodulin. Nat Genet. 2005 Mar;37(3):282-8. doi: 10.1038/ng1520. Epub ... congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol. 2011 Jan; ...
- ... be a feature of genetic syndromes, such as Leber congenital amaurosis and arterial tortuosity syndrome. When it is part ...
- ... treat inherited disorders like spinal muscular atrophy and Leber congenital amaurosis . Learn how to cite this page