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Results 1 - 7 of 7 for Optic atrophy 6
  1. WFS1 gene 
    ... gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  2. OPA3 gene 
    ... methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. doi: 10.1086/324651. Epub 2001 ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  3. OPA1 gene 
    ... isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6. Citation on PubMed Schimpf S, Fuhrmann N, Schaich ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  4. MFN2 gene 
    ... Am J Med Genet A. 2016 Jun;170(6):1580-4. doi: 10.1002/ajmg.a.37611. Epub 2016 Mar ... neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  5. TPP1 gene 
    ... rapid eye movements (saccades), and trouble moving the eyes side-to-side (oculomotor apraxia). People with SCAR7 have progressive loss of cells (atrophy) of various parts of the brain, particularly within ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  6. FGFR3 gene 
    ... ears, the skeleton, and the glands in the eyes and mouth in people with LADD syndrome. More ... callosum), and a loss of brain cells (cortical atrophy). It is thought that the neurological problems occur ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. PNKP gene 
    ... problems with side-to-side movement of the eyes (oculomotor apraxia). These problems are due to the ... Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics