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Results 1 - 10 of 11 for Retinitis pigmentosa 71
  1. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  2. RPGR gene 
    ... AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; ... degeneration from RPGR mutation. Genomics. 2002 Aug;80(2):166-71. doi: 10.1006/geno.2002.6815. Citation on ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  3. TRNT1 deficiency 
    ... SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  4. TRNT1 gene 
    ... SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  5. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  6. MYO7A gene 
    ... were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later ... However, other individuals diagnosed with DFNB2 never develop retinitis pigmentosa, and recent studies indicate that DFNB2 and Usher ...
    https://medlineplus.gov/genetics/gene/myo7a - Genetics
  7. 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
  8. CLRN1 gene 
    ... 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: ...
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  9. CDH23 gene 
    ... to have DFNB12 have developed the vision disorder retinitis pigmentosa later in life, which is characteristic of Usher ... lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  10. 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
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