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Results 1 - 10 of 20 for Leukoencephalopathy with vanishing white matter 3
  1. CSF1R gene 
    ... Morishita S, Tsuji S. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  2. DARS1 gene 
    ... van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub ...
    https://medlineplus.gov/genetics/gene/dars1 - Genetics
  3. AUH gene 
    ... type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. Citation on PubMed
    https://medlineplus.gov/genetics/gene/auh - Genetics
  4. MLC1 gene 
    ... Bertini E, Santorelli FM, Estevez R. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Hum Mutat. 2006 Mar;27(3):292. doi: 10.1002/humu.9407. Citation on ...
    https://medlineplus.gov/genetics/gene/mlc1 - Genetics
  5. EIF2B3 gene 
    ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. More About This Health Condition EI2BG_HUMAN EIF-2B EIF2Bgamma eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD) eukaryotic translation initiation factor 2B, subunit ...
    https://medlineplus.gov/genetics/gene/eif2b3 - Genetics
  6. HEPACAM gene 
    ... Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy. Hum ... Citation on PubMed Lopez-Hernandez T, Ridder MC, ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
  7. RNASET2 gene 
    The RNASET2 gene provides instructions for making a protein called ribonuclease T2 (RNAse T2), which is abundant in the brain. Ribonucleases help break down ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  8. NOTCH3 gene 
    The NOTCH3 gene provides instructions for making a protein with one end (the intracellular end) that remains inside the cell, a middle (transmembrane) section ...
    https://medlineplus.gov/genetics/gene/notch3 - Genetics
  9. EARS2 gene 
    ... EARS2 gene have been found in individuals with leukoencephalopathy with thalamus and brainstem involvement and high lactate ( ... Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate ( ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  10. EIF2B5 gene 
    ... identified in about 65 percent of people with leukoencephalopathy with vanishing white matter, including those with a ... and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy) and some affected females with a variant of ...
    https://medlineplus.gov/genetics/gene/eif2b5 - Genetics
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