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Results 1 - 10 of 51 for "Cone-rod" dystrophy 5
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 3 Genetic Testing Registry: Cone-rod dystrophy 5 Genetic Testing Registry: Cone-rod dystrophy 6 Genetic ... CORD6 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 CONE-ROD DYSTROPHY 5; CORD5 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. CRX gene 
    ... P, Guo X, Zhang Q. CRX variants in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun. 2012 Oct 5;426(4):498-503. doi: 10.1016/j.bbrc.2012.08.110. Epub 2012 Aug 30. Citation on PubMed Huang L, ... with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One. ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  3. 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
  4. PDE6C gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase 6C COD4 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' PDEA2 phosphodiesterase 6C, cGMP- ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  5. BEST1 gene 
    ... a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009. ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  6. Mainzer-Saldino syndrome 
    ... Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. Citation ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  7. 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
  8. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  9. Ataxia with vitamin E deficiency 
    ... this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  10. CRB1 gene 
    ... Hoyng CB, Cremers FP. Leber congenital amaurosis and retinitis pigmentosa ... Am J Hum Genet 2001 Nov;69(5):1160. Citation on PubMed or Free article on ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
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