Specific de novo variants in RNF213 cause a monogenic early-onset   multisystemic disease ranging from childhood stroke to Leigh-like   syndrome

Title:: Specific de novo variants in RNF213 cause a monogenic early-onset multisystemic disease ranging from childhood stroke to Leigh-like syndrome
Document type:: Meeting Abstract
Author(s):: Brunet, Theresa; Lieftuechter, Victoria; Lenz, Dominic; Peters, Philipp; Kopajtich, Robert; Zott, Benedikt; Zimmermann, Hanna; Huening, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert; McFarland, Robert; Zigman, Tamara; Ramadza, Danijela Petkovic; Meino, Rohlfs; Hehr, Ute; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos; Kosma, Konstantina; Traeger-Synodinos, Jan; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias «
Brunet, Theresa; Lieftuechter, Victoria; Lenz, Dominic; Peters, Philipp; Kopajtich, Robert; Zott, Benedikt; Zimmermann, Hanna; Huening, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert; McFarland, Robert; Zigman, Tamara; Ramadza, Danijela Petkovic; Meino, Rohlfs; Hehr, Ute; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos; Kosma, Konstantina; Traeger-Synodinos, Jan; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric,... »
Journal title abbreviation:: Eur J Hum Genet
Year:: 2023
Journal volume:: 31 Suppl 1
Pages contribution:: 418-419
Print-ISSN:: 1018-4813
TUM Institution:: Institut für Humangenetik (Prof. Winkelmann)
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