DLG4-related synaptopathy: a new rare brain disorder

Rodríguez-Palmero, Agustí; Gómez-Andrés, David; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; de Man, Stella A.; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Soller, Maria Johansson; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjørn Ivar; Hoyer, Juliane; Mendelsohn, Bryce A.; Hurst, Anna C. E.; Moghadasi, Setareh; Isidor, Bertrand; Morton, Jenny E.; Kushary, Sulagna; Moutton, Sebastien; Müller, Amelie J.; Kvarnung, Malin; O’Leary, Melanie; Landau, Yuval E.; Leppig, Kathleen A.; Pacio-Míguez, Marta; Boerrigter, Melissa Maria; Lindstrand, Anna; Palomares-Bralo, Maria; Aldinger, Kimberly A.; Kleinendorst, Lotte; Parikh, Sumit; MacKenzie, Alex; Pfundt, Rolph; Arpin, Stephanie; Mandrile, Giorgia; Pode-Shakked, Ben; Bahrambeigi, Vahid; Rauch, Anita; Beunders, Gea; Bisgaard, Anne-Marie; Repnikova, Elena; Bjerregaard, V. A.; Revah-Politi, Anya; Bruel, Ange-Line; Challman, Thomas D.; Ross, Meredith J.; Cogné, Benjamin; Ruivenkamp, Claudia A. L.; Coubes, Christine; Sarrazin, Elisabeth; Denommé-Pichon, Anne-Sophie; Savatt, Juliann M.; Schlüter, Agatha; Schönewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; van Bon, Bregje; van de Burgt, Ineke; Mau-Them, Frederic Tran; van de Laar, Ingrid M. B. H.; van Drie, Esmée; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmüller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gómez-Puertas, Paulino; Pujol, Aurora; Tümer, Zeynep

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Elsevier, Genetics in Medicine, 5(23), p. 888-899, 2021

DOI: 10.1038/s41436-020-01075-9

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DLG4-related synaptopathy: a new rare brain disorder

Journal article published in 2021 by Agustí Rodríguez-Palmero

, David Gómez-Andrés, Íñigo Marcos-Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stella A. de Man, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García-Miñaúr, Tracy Gertler, Elisa Giorgio, Maria Johansson Soller, Nicolas Gruchy and other authors.

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DLG4-related synaptopathy: a new rare brain disorder