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Results 1 - 7 of 7 for Optic atrophy 15
  1. 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/ ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  2. MFN2 gene 
    ... carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  3. WFS1 gene 
    ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ... that is characterized by progressive hearing loss and optic atrophy leading to vision loss, typically beginning in adolescence. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  4. ATP1A3 gene 
    ... group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. This specific presentation is ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  5. CLPB gene 
    ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  6. FGFR3 gene 
    ... attachment in keratinocytes. Exp Cell Res. 2010 Jul 15;316(12):2008-16. doi: 10.1016/j. ... doi: 10.1073/pnas.1008365107. Epub 2010 Nov 15. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. PNKP gene 
    ... doi: 10.1093/nar/gks318. Epub 2012 Apr 15. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics