Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

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Authors: Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely, Inga Harting, Toya Ohashi, Yasushi Okazaki, Daisaku Watanabe, Yoshimi Tokuzawa, Urania Kotzaeridou, Stefan Kölker, Sven Sauer, Matthias Carl, Simon Straub, Andreas Entenmann, Elke Gizewski, René G. Feichtinger, Johannes A. Mayr, Karoline Lackner, Tim M. Strom, Thomas Meitinger, Thomas Müll

Journal title: The American Journal of Human Genetics

Journal number: 99/2

Journal publisher: University of Chicago Press

Published year: 2016

Published pages: 414-422

DOI identifier: 10.1016/j.ajhg.2016.05.027

ISSN: 0002-9297