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"Cone-rod" dystrophy 12
- ... Registry: Cone-rod dystrophy 11 Genetic Testing Registry: Cone-rod dystrophy 12 Genetic Testing Registry: Cone-rod dystrophy 13 Genetic ... DYSTROPHY 19; CORD19 CONE-ROD DYSTROPHY 17; CORD17 CONE-ROD DYSTROPHY 12; CORD12 PubMed Boulanger-Scemama E, El Shamieh S, ...
- ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; CRB1 ...
- ... 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. ...
- ... within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000 ... 2006 Jun 12. No abstract available. Citation on PubMed Yang Z, ...
- ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
- ... The most common rod-cone dystrophy is called retinitis pigmentosa, and the vision problems in Mainzer-Saldino syndrome ... deposits of pigment in the retina from which retinitis pigmentosa gets its name are often not found in ...
- ... been found in people with neuropathy, ataxia, and retinitis pigmentosa (NARP). The MT-ATP6 gene provides instructions for ... for making a type of ribosomal RNA called 12S RNA. This molecule helps assemble protein building blocks ...
- ... 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 ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition USH3 USH3A USH3A_ ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition MedlinePlus Genetics provides ...