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Results 1 - 7 of 7 for Hypomyelinating leukodystrophy 10
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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.2011.07.014. Erratum In: ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  2. POLR3B gene 
    ... largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89(5):652-5. doi: 10.1016/j.ajhg.2011.10.006. Epub 2011 ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  3. 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.2011.07.014. Erratum In: ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. TUBB4A-related leukodystrophy 
    ... A, Boespflug-Tanguy O, Bertini E. TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 ...
    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 ... disease: Genetic and cellular pathogenesis. Cell Mol Life Sci. 2007 Jan;64(1):50-65. doi: 10.1007/s00018-006-6182-8. Citation on PubMed ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  6. Pelizaeus-Merzbacher-like disease type 1 
    ... like disease National Organization for Rare Disorders (NORD) ... disease 1, and related hypomyelinating disorders. Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15. ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
  7. Hypomyelination and congenital cataract 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 PubMed Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, ... doi: 10.1002/ana.21175. Citation on PubMed Rossi A, ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics