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Results 1 - 10 of 69 for "Cone-rod" dystrophy 1
  1. Cone-rod dystrophy 
    ... cone-rod dystrophy Tapetoretinal degeneration Genetic Testing Registry: Cone-rod dystrophy 1 Genetic Testing Registry: Cone-rod dystrophy 10 Genetic ... Cone-rod dystrophy Genetic Testing Registry: X-linked cone-rod dystrophy 1 Genetic Testing Registry: X-linked cone-rod dystrophy ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. RPGR gene 
    ... WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci FY, ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  3. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Foundation Fighting Blindness ... Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  4. ABCA4 gene 
    ... be associated with more severe vision problems than cone-rod dystrophy caused by other genetic variants. More About This Health Condition More than 1,000 variants in the ABCA4 gene have been ...
    https://medlineplus.gov/genetics/gene/abca4 - Genetics
  5. PRPH2 gene 
    ... FUNDUS ALBIPUNCTATUS PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 NCBI Gene ClinVar Boon CJ, den ... Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis ... retinopathies. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001) ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  6. CRB1 gene 
    ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; CRB1 NCBI Gene ClinVar den Hollander AI, Davis ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  7. BEST1 gene 
    ... mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5): ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  8. Retinitis pigmentosa 
    ... gov/books/NBK1417/ Citation on PubMed Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Citation on PubMed or Free article on PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  9. Retinitis pigmentosa 
    ... main risk factor is a family history of retinitis pigmentosa. It is a rare condition affecting about 1 in 4,000 people in the United States.
    https://medlineplus.gov/ency/article/001029.htm - Medical Encyclopedia
  10. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016. ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
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