Citations for
1PRLTS5, TWNK
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
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.
J Transl Med 15(1):25. doi: 10.1186/s12967-017-1129-4. 2017
2HSD17B4, PRLTS5
Expanding the genotypic spectrum of Perrault syndrome.
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.
Clin Genet 91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. 2017
3PRLTS5, TWNK
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
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.
Neurology 83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29. 2014