The Novel MYH9 Variant, c.1270C&gt;G, p.Arg424Gly, Causes Epstein-Fechtner Syndrome by the Modification of Nonmuscular Myosin IIA Contraction

Lena Pollinger, Johannes N. Greve, Sara Kaliman, Shada Abuhattum, Martin Kräter, Antje Wiesener, Francesca Pasutto, Melanie Grosch, Jan René Haak, Cathiana Kolb, Christoph Daniel, Kerstin U. Amann, Mario Schiffer, Dietmar J. Manstein, Michael Sean Wiesener, Tilman Jobst-Schwan

doi:10.1681/asn.2024zppfbqxy

The Novel MYH9 Variant, c.1270C>G, p.Arg424Gly, Causes Epstein-Fechtner Syndrome by the Modification of Nonmuscular Myosin IIA Contraction

Authors: Lena Pollinger, Johannes N. Greve, Sara Kaliman, Shada Abuhattum, Martin Kräter, Antje Wiesener, Francesca Pasutto, Melanie Grosch, Jan René Haak, Cathiana Kolb, Christoph Daniel, Kerstin U. Amann, Mario Schiffer, Dietmar J. Manstein, Michael Sean Wiesener, Tilman Jobst-Schwan

Published: 2024-10-28

DOI: 10.1681/asn.2024zppfbqxy

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The Novel MYH9 Variant, c.1270C&gt;G, p.Arg424Gly, Causes Epstein-Fechtner Syndrome by the Modification of Nonmuscular Myosin IIA Contraction

The Novel MYH9 Variant, c.1270C>G, p.Arg424Gly, Causes Epstein-Fechtner Syndrome by the Modification of Nonmuscular Myosin IIA Contraction