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"Leukodystrophy," "hypomyelinating," 21
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- ... H. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating ... A. TUBB4A-Related Leukodystrophy. 2016 Nov 3. In: Adam MP, Feldman J, ...
- ... j.jns.2012.07.005. Epub 2012 Jul 21. Citation on PubMed ... cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89( ...
- ... like disease National Organization for Rare Disorders (NORD) LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 PubMed Hobson GM, Garbern JY. Pelizaeus- ... Wu X, Xiao J, Jiang Y, Wang J. Hypomyelinating disorders in China: The clinical and ... Disease 1. 2017 Dec 21 [updated 2019 Jan 17]. In: Adam MP, Feldman ...
- ... 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 ...