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Cataract "9," autosomal recessive
- ... Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub ... with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum ...
- ... G, Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576. No ...
- ... in the eyes (glaucoma); clouding of the lens (cataracts); and a condition ... autosomal recessive bestrophinopathy (ARB) is also caused by mutations in ...
- ... H, Rodahl E. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Invest Ophthalmol Vis Sci. ...