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Results 1 - 10 of 17 for "Cone-rod" dystrophy 22
  1. PRPH2 gene 
    ... Traboulsi EI. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001 Sep;22(3):133-54. doi: 10.1076/opge.22.3.133.2224. Citation on PubMed Wells J, Wroblewski J, Keen J, ... cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3( ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  2. TRNT1 deficiency 
    ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  3. TRNT1 gene 
    ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  4. 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.2009.09.015. Epub 2009 Oct 22. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  5. Neuropathy, ataxia, and retinitis pigmentosa 
    ... Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  6. Usher Syndrome From the National Institutes of Health (National Institute on Deafness and Other Communication Disorders)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Usher syndrome is the most common condition that affects both hearing and vision; sometimes it also affects balance. ...
    https://www.nidcd.nih.gov/health/usher-syndrome - External Health Links
  7. Cone-rod dystrophy 
    Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  8. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    What is Retinitis Pigmentosa? Learn about the signs and symptoms of the retinal condition retinitis pigmentosa, as well as how to live with the ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  9. Usher syndrome 
    ... vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive ... of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.Researchers ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  10. Bardet-Biedl syndrome 
    ... syndrome: beyond the cilium. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
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