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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

2023; Elsevier BV; Volume: 26; Issue: 2 Linguagem: Inglês

10.1016/j.gim.2023.101013

1530-0366

Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning, Diana Ballhausen, Christian Staufner, Alyssa Bianzano, Joanne Hughes, Robert W. Taylor, Robert McFarland, Anita Devlin, Mihaela Mihaljević, Nina Barišić, Meino Rohlfs, Sibylle Wilfling, Neal Sondheimer, Stacy Hewson, Nikolaos M. Marinakis, Konstantina Kosma, Joanne Traeger‐Synodinos, Miriam Elbracht, Matthias Begemann, Sonja Trepels‐Kottek, Dimah Hasan, Marcello Scala, Valeria Capra, Federico Zara, Amelie T. van der Ven, Joenna Driemeyer, Christian Apitz, Johannes Krämer, Alanna Strong, Hákon Hákonarson, Deborah Watson, Johannes A. Mayr, Holger Prokisch, Thomas Meitinger, Ingo Borggraefe, Juliane Spiegler, Ivo Barić, Marco Paolini, Lucia Gerstl, Matias Wagner,

Connective tissue disorders research