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

Brunet, Theresa and Lieftuechter, Victoria and Lenz, Dominic and Peters, Philipp and Kopajtich, Robert and Zott, Benedikt and Zimmermann, Hanna and Huening, Irina and Ballhausen, Diana and Staufner, Christian and Bianzano, Alyssa and Hughes, Joanne and Taylor, Robert and McFarland, Robert and Zigman, Tamara and Ramadza, Danijela Petkovic and Meino, Rohlfs and Hehr, Ute and Sondheimer, Neal and Hewson, Stacy and Marinakis, Nikolaos and Kosma, Konstantina and Traeger-Synodinos, Jan and Prokisch, Holger and Meitinger, Thomas and Borggraefe, Ingo and Spiegler, Juliane and Baric, Ivo and Paolini, Marco and Gerstl, Lucia and Wagner, Matias (2023) Specific de novo variants in RNF213 cause a monogenic early-onset multisystemic disease ranging from childhood stroke to Leigh-like syndrome. In: 55th European-Society of Human Genetics (ESHG) Conference, June 11-14, 2022, Vienna, Austria.

Full text not available from this repository.

Item Type:	Conference or Workshop Item (Poster)
Subjects:	600 Technology > 610 Medical sciences Medicine
Divisions:	Medicine > Lehrstuhl für Humangenetik
Depositing User:	Dr. Gernot Deinzer
Date Deposited:	05 Mar 2024 07:35
Last Modified:	05 Mar 2024 07:35
URI:	https://pred.uni-regensburg.de/id/eprint/60666

Actions (login required)

View Item