Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sebastien Jacquemont, Paulien Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul-Rahman, Vanessa Suckow, Alberto Fernández-Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn V.E. Macville, Salwan Al-Nasiry, Koen van Gassen, Norbert UtzigSuzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri A. Gradek, Andrew G.L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

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Biochemistry, Genetics and Molecular Biology

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