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Results 1 - 10 of 35 for Retinitis "Pigmentosa," Recessive
  1. ... in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci ...
  2. ... to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought ... parent and other family members with the disorder.Retinitis pigmentosa can also have an autosomal recessive pattern of inheritance, which means both copies of ...
  3. ... Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis ...
  4. ... Rarely, mutations in the RHO gene cause autosomal recessive retinitis pigmentosa. However, this form of the disorder usually results ...
  5. ... retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 ...
  6. ... DELXp11.3 KIAA0215 NM23-H10 NME10 protein XRP2 retinitis pigmentosa 2 (X-linked recessive) TBCCD2 XRP2 XRP2_HUMAN Tests of RP2 PubMed ...
  7. ... nearsightedness as a feature. These conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch ...
  8. Usher Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Find symptoms and other information about Usher syndrome. ... Usher Syndrome/Learn More ... Usher Syndrome ... Genetic and Rare Diseases Information Center ... From the National ...
  9. ... AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR ... Gorin MB, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002 ...
  10. ... The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Retinitis pigmentosa with erythrocytic microcytosis RPEM Sideroblastic anemia with B- ...
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