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Results 1 - 7 of 7 for Hypomyelinating leukodystrophy 2
Did you mean hypomyelination leukodystrophy 2?
  1. Pelizaeus-Merzbacher-like disease type 1 
    ... show signs and symptoms of the condition. HLD2 Hypomyelinating leukodystrophy 2 Pelizaeus Merzbacher like disease Pelizaeus-Merzbacher-like disease ... Pelizaeus Merzbacher like disease PMLD1 Genetic Testing Registry: ... Pelizaeus-Merzbacher-like disease National Organization for Rare ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
  2. 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. ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - 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: Am J Hum Genet. 2012 Nov 2;91(5):972. Citation on PubMed or Free ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. 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: Am J Hum Genet. 2012 Nov 2;91(5):972. Citation on PubMed or Free ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  5. Hypomyelination and congenital cataract 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... of hypomyelination and congenital cataract. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Citation ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  6. 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
  7. POLR3B gene 
    ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic ... largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89( ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics