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Results 1 - 10 of 14 for Leber congenital amaurosis 4
  1. ... Registry: Leber congenital amaurosis 3 Genetic Testing Registry: Leber congenital amaurosis 4 Genetic Testing Registry: Leber congenital amaurosis 5 Genetic ...
  2. Choroideremia (Foundation Fighting Blindness)  
    Eye Diseases/Specifics ... Eye Diseases ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
  3. ... 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 ...
  4. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the ...
  5. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
  6. ... Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008. ...
  7. ... Rozet JM. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485. Citation on ...
  8. ... Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008. ...
  9. ... called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in ... fluids and waste products from the body effectively.Leber congenital amaurosis primarily affects the retina, which is the specialized ...
  10. Getting Professional Eye Care (Prevent Blindness America)  
    Eye Care/Diagnosis and Tests ... Eye Care ... Eye Diseases/Diagnosis and Tests ... Eye Diseases ... Health Screening/Specifics ... Health Screening ... Prevent Blindness America ... What ...
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