Lenz Microphthalmia Syndrome

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
Taraneh 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 Huang

Journal of Medical Genetics Mar 2014, 51 (3) 185-196; DOI: 10.1136/jmedgenet-2013-101660

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Lenz Microphthalmia Syndrome