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Results 1 - 9 of 9 for Cataract 38
  1. Hypomyelination and congenital cataract 
    ... newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Citation on PubMed
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  2. HYCC1 gene 
    ... newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub ...
    https://medlineplus.gov/genetics/gene/hycc1 - Genetics
  3. CLPB gene 
    ... S, Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015- ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  4. CLPB deficiency 
    ... S, Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015- ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  5. Gyrate atrophy of the choroid and retina 
    ... develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by ... a child with myopia. Indian Pediatr. 2001 Aug;38(8):914-8. No abstract available. Citation on ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  6. Lowe syndrome 
    ... clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair ... Nat Rev Nephrol. 2009 Sep;5(9):529-38. doi: 10.1038/nrneph.2009.124. Citation on ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  7. Werner syndrome 
    ... aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, ... Registries, and Translational Prospects. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. ...
    https://medlineplus.gov/genetics/condition/werner-syndrome - Genetics
  8. CAV1 gene 
    ... lens of the eyes starting at birth (congenital cataracts). The CAV1 gene mutations that cause this condition ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  9. GALK1 gene 
    ... develop clouding of the lens of the eye (cataracts) but otherwise experience few of the long-term ... kinase. J Biol Chem. 2005 Sep 23;280(38):32784-91. doi: 10.1074/jbc.M505730200. Epub ...
    https://medlineplus.gov/genetics/gene/galk1 - Genetics