| Autor: |
Brunet, Theresa, Zott, Benedikt, Lieftüchter, Victoria, Lenz, Dominic, Schmidt, Axel, Peters, Philipp, Kopajtich, Robert, Zaddach, Malin, Zimmermann, Hanna, Hüning, Irina, Ballhausen, Diana, Staufner, Christian, Bianzano, Alyssa, Hughes, Joanne, Taylor, Robert W., McFarland, Robert, Devlin, Anita, Mihaljević, Mihaela, Barišić, Nina, Rohlfs, Meino, Wilfling, Sibylle, Sondheimer, Neal, Hewson, Stacy, Marinakis, Nikolaos M., Kosma, Konstantina, Traeger-Synodinos, Joanne, Elbracht, Miriam, Begemann, Matthias, Trepels-Kottek, Sonja, Hasan, Dimah, Scala, Marcello, Capra, Valeria, Zara, Federico, van der Ven, Amelie T., Driemeyer, Joenna, Apitz, Christian, Krämer, Johannes, Strong, Alanna, Hakonarson, Hakon, Watson, Deborah, Mayr, Johannes A., Prokisch, Holger, Meitinger, Thomas, Borggraefe, Ingo, Spiegler, Juliane, Baric, Ivo, Paolini, Marco, Gerstl, Lucia, Wagner, Matias |
| Zdroj: |
Genetics in Medicine; February 2024, Vol. 26 Issue: 2 |
| Abstrakt: |
RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in RNF213with an early-onset form of moyamoya disease with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations. |
| Databáze: |
Supplemental Index |
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