Publication
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M. Srinivasan, Vykuntaraju Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M. Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agusti Rodriguez-Palmero, Nicolas Chatron, Gaetan Lesca, Hüseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Neurology Genetics, August 2024, Wolters Kluwer Health
DOI: 10.1212/nxg.0000000000200168