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"Leukodystrophy," "hypomyelinating," 15
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- ... like disease National Organization for Rare Disorders (NORD) ... Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15. Citation on PubMed Ji H, Li D, Wu ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics. 2014 May;15(2):107-13. doi: 10.1007/s10048-014- ...
- ... of polymerase III. J Neurol Sci. 2012 Sep 15;320(1-2):102-5. doi: ... cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89( ...
- ... to their sons. Cockayne-Pelizaeus-Merzbacher disease HLD1 Hypomyelinating leukodystrophy, 1 PMD Sudanophilic leukodystrophy Genetic Testing Registry: Pelizaeus- ...
- ... of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89( ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic ...