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NAA10
- NAA10 polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari, Heather M Chapman, David N Cooper, Tabib Dabir, Jeffrey N Dudley, Richard J Holt, Nicola K Ragge, Alejandro A Schäffer, Shurjo K Sen, Anne M Slavotinek, David R FitzPatrick, Thomas M Glaser, Fiona Stewart, Graeme CM Black, Leslie G BieseckerJournal of Medical Genetics Jul 2019, 56 (7) 444-452; DOI: 10.1136/jmedgenet-2018-105836
- A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndromeTaraneh Esmailpour, Hamidreza Riazifar, Linan Liu, Sandra Donkervoort, Vincent H Huang, Shreshtha Madaan, Bassem M Shoucri, Anke Busch, Jie Wu, Alexander Towbin, Robert B Chadwick, Adolfo Sequeira, Marquis P Vawter, Guoli Sun, Jennifer J Johnston, Leslie G Biesecker, Riki Kawaguchi, Hui Sun, Virginia Kimonis, Taosheng HuangJournal of Medical Genetics Mar 2014, 51 (3) 185-196; DOI: 10.1136/jmedgenet-2013-101660
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