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Results 1 - 5 of 5 for Hypomyelinating leukodystrophy 2
  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 ...
  2. ... 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. ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... to their sons. Cockayne-Pelizaeus-Merzbacher disease HLD1 Hypomyelinating leukodystrophy, 1 PMD Sudanophilic leukodystrophy Genetic Testing Registry: Pelizaeus- ...