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Results 1 - 10 of 16 for Leber congenital amaurosis 10
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 1 Genetic Testing Registry: Leber congenital amaurosis 10 Genetic Testing Registry: Leber congenital amaurosis 11 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. GUCY2D gene 
    ... GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010.81. ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. CRB1 gene 
    ... Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol. 2001 Mar;119(3):415-20. doi: 10.1001/archopht.119.3.415. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  4. CEP290 gene 
    ... 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 Jul 11. Citation on ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. RPE65 gene 
    ... in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93. doi: 10.1073/pnas.95.6.3088. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  6. Senior-Løken syndrome 
    ... SG. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol. 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. Citation on PubMed or ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  7. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  8. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  9. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  10. Nystagmus (American Association for Pediatric Ophthalmology and Strabismus)  
    Eye Movement Disorders/Start Here ... Eye Movement Disorders ... GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, DICTIONARY ... Shows a single glossary entry ... American ...
    https://www.aapos.org/glossary/nystagmus - External Health Links
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