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Optic atrophy 8
- ... 10.1002/ajmg.a.37611. Epub 2016 Mar 8. Citation on PubMed ... neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann ...
- ... 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. ...
- ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ...
- ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
- ... Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351-8. Epub 2012 Dec 9. Citation on PubMed Reynolds ...
- ... ears, the skeleton, and the glands in the eyes and mouth in people with LADD syndrome. More ... of ligand. Biochim Biophys Acta. 2011 Aug;1808(8):2045-50. doi: 10.1016/j.bbamem.2011. ...