| 1 | HCAHC, POLR3B
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| De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
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| Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G.
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| Am J Hum Genet. Jan 7;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002 2021
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| 2 | HCAHC, POLR3B
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| 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
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| Verberne EA, Dalen Meurs L, Wolf NI, van Haelst MM.
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| Am J Med Genet A. Jul;182(7):1776-1779. doi: 10.1002/ajmg.a.61600. Epub 2020 Apr 22 2020
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| 3 | HCAHC, HLD7, POLR3A, POLR3B
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| Dystonia in RNA Polymerase III-Related Leukodystrophy
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| Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G
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| Mov Disord Clin Pract. Jan 9;6(2):155-159. doi: 10.1002/mdc3.12715. 2019
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| 4 | HCAHC, HLD7, POLR3A, POLR3B
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| Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
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| Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, Smol T, Caumes R, de Roux N, Manouvrier-Hanu S.
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| Eur J Hum Genet 25(8):1011-1014. doi: 10.1038/ejhg.2017.73. Epub 2017 Jun 7.
2017
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| 5 | HCAHC, POLR3B
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| Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.
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| Jurkiewicz E, Dunin-Wąsowicz D, Gieruszczak-Białek D, Malczyk K, Guerrero K, Gutierrez M, Tran L, Bernard G.
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| Clin Neuroradiol Jun;27(2):213-220. doi: 10.1007/s00062-015-0472-1. Epub 2015 Oct 19. 2017
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| 6 | HCAHC, POLR3B
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| Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature
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| Billington E, Bernard G, Gibson W, Corenblum B
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| Case Rep Endocrinol. ;2015:314594. doi: 10.1155/2015/314594. Epub 2015 May 31 2015
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| 7 | HCAHC, HLD7, POLR3A, POLR3B
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| Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
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| Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G.
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| J Med Genet Med Genet. 2013 M 2013
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| 8 | HCAHC, HLD7, POLR3A, POLR3B
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| Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy.
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| Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
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| Am J Hum Genet 89(5):644-51. Epub 2011 Oct 27. 2011
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| 9 | HCAHC, HLD7, POLR3B, POLRE3A
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| Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy.
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| Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G.
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| Am J Hum Genet 89(5):652-5. Epub 2011 Oct 27. 2011
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