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Results 1 - 10 of 15 for Retinitis pigmentosa 18
  1. Retinitis pigmentosa 
    ... PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140- ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. CLRN1 gene 
    ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010.10.047. Epub 2011 Feb 18. Citation on PubMed
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  3. USH2A gene 
    ... EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  4. Refsum disease 
    ... disease Genetic Testing Registry: Phytanic acid storage disease ... variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004 Mar;23(3):209-18. doi: 10.1002/humu.10315. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  5. Usher syndrome 
    ... Usher syndrome. Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: ... pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  6. TRNT1 deficiency 
    ... developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  7. TRNT1 gene 
    ... developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  8. RHO gene 
    ... light that remains stable (stationary) over time. Unlike retinitis pigmentosa (described below), autosomal dominant congenital stationary night blindness ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  9. CRB1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition CRUM1_HUMAN crumbs ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  10. Mitochondrial complex V deficiency 
    ... can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ... have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.A condition called Leigh ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
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