| 1 | PRLTS5, TWNK
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| Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
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| Ołdak M, Oziębło D, Pollak A, Stępniak I, Lazniewski M, Lechowicz U, Kochanek K, Furmanek M, Tacikowska G, Plewczynski D, Wolak T, Płoski R, Skarżyński H.
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| J Transl Med 15(1):25. doi: 10.1186/s12967-017-1129-4.
2017
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| 2 | HSD17B4, PRLTS5
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| Expanding the genotypic spectrum of Perrault syndrome.
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| Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG.
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| Clin Genet 91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1.
2017
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| 3 | PRLTS5, TWNK
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| Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
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| Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H.
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| Neurology 83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29.
2014
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