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Results 1 - 10 of 11 for Retinitis pigmentosa 43
  1. RPGR gene 
    ... X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet. 2006 Apr;43(4):326-33. doi: 10.1136/jmg.2005.034868. Epub 2005 Jul 31. Citation on PubMed or Free article on PubMed Central ... of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  2. Retinitis pigmentosa 
    ... 12. Gregory-Evans K, Yang P, Pennesi ME. Retinitis pigmentosa and allied disorders. In: Sadda SR, Sarraf D, Freund KB, et al , eds. Ryan's Retina . 7th ed. Philadelphia, PA: Elsevier; 2023:chap 43. Olitisky SE, Marsh JD. Disorders of the retina ...
    https://medlineplus.gov/ency/article/001029.htm - Medical Encyclopedia
  3. TTPA gene 
    ... heritable vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9. doi: 10.1021/bi0363073. Citation on PubMed Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  4. Vitelliform macular dystrophy 
    ... retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat ... Citation on PubMed
    https://medlineplus.gov/.../condition/vitelliform-macular-dystrophy - Genetics
  5. WDR19 gene 
    ... Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct ... retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  6. PRPH2 gene 
    ... in the PRPH2 gene can cause autosomal dominant retinitis pigmentosa, an eye disease that first disrupts night vision ... other retinal disorders caused by PRPH2 gene mutations, retinitis pigmentosa involves a slow degeneration of photoreceptor cells, leading ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  7. BEST1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition BEST1 gene mutations ... individuals with eye abnormalities similar to those in retinitis pigmentosa, although some doctors think these individuals have a ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  8. 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
  9. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99( ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  10. Pantothenate kinase-associated neurodegeneration 
    ... psychiatric problems.A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) syndrome, which was historically described ...
    https://medlineplus.gov/...enate-kinase-associated-neurodegeneration - Genetics
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