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Results 1 - 6 of 6 for Hypomyelinating leukodystrophy 3
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  1. Pol III-related leukodystrophy 
    ... of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011. ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with ... J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  2. POLR3A gene 
    ... of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011. ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with ... J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  3. POLR3B gene 
    ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  4. TUBB4A-related leukodystrophy 
    ... H. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating ... Leukodystrophy. 2016 Nov 3. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  5. Pelizaeus-Merzbacher disease 
    ... to their sons. Cockayne-Pelizaeus-Merzbacher disease HLD1 Hypomyelinating leukodystrophy, 1 PMD Sudanophilic leukodystrophy Genetic Testing Registry: Pelizaeus- ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  6. Hypomyelination and congenital cataract 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 PubMed Biancheri R, Zara F, Bruno ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics