Author(s): Bertoli-Avella, Aida M., MD, Al Hashem, Amal, Keren, Boris, PhD, MD, Tan, Wen-Hann, MD, Vandervore, Laura V., Schot, Rachel, Milanese, Chiara, PHD, Smits, Daphne J., Kasteleijn, Esmee, Fry, Andrew E., Pilz, Daniela T., Brock, Stefanie, Börklü-Yücel, Esra, Post, Marco, Bahi-Buisson, Nadia, MD PhD, Sánchez-Soler, María José, van Slegtenhorst, Marjon, Afenjar, Alexandra, Coury, Stephanie A., Oegema, Renske, MD, de Vries, Linda S., Fawcett, Katherine A., Nikkels, Peter G J, Dr., Alwabel, Abdulmalik A., Tlili-Graiess, Kalthoum, Efthymiou, Stephanie, BSc MSc PhD, Zafar, Faisal, Rana, Nuzhat, Bibi, Farah, Houlden, Henry, MD PhD, Maroofian, Reza, PhD, Person, Richard, Crunk, Amy, Savatt, Juliann M., Turner, Lisbeth, Doosti, Mohammad, PhD, Karimiani, Ehsan Ghayoor, MD MRes PhD, Saadi, Nebal Waill, Akhondian, Javad, Lequin, Maarten H., Kayserili, Hülya, Van der Spek, Peter J., Prof. Dr. Ing., Jansen, Anna C., Kros, Johan M., Verdijk, Robert, MD PhD, Jovanov-Milošević, Nataša, PhD Associate Professor, Fornerod, Maarten, Mastroberardino, Pier Giorgio, Mancini, Grazia M. S.
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.
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