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

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Published in J Med Genet on January 15, 2014

Authors

Taraneh Esmailpour1, 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

Author Affiliations

1: Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA.

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